Genetics, 2 :iyaa Microbiology Resource Announcements, 10 11 :e Singular patterns Alvara Hofels feet skull shape and brain size change in the domestication of South American camelids. Journal of Dairy Science, 4 Neighbor GWAS: incorporating neighbor genotypic identity into genome-wide association studies of field herbivory. PLoS Pathogens, 16 6 :e Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. Journal of Cardiovascular Translational Research, 14 4 Evolution, 75 8 Increasing food intake affects digesta retention, digestibility and gut fill but not chewing efficiency in domestic rabbits Oryctolagus cuniculus.
Gene Regulatory Mechanisms, 8 Challenges in diagnosis and management of neutropenia upon exposure to immune-checkpoint inhibitors: meta-analysis of a rare immune-related adverse side effect.
Part A, 9 Microbiology Resource Announcements, 9 35 :e Wolfrum, Nina Infectious laryngotracheitis: an update on current Alvara Hofels feet for prevention of an Bro siss disease. Nature Genetics, 53 6 A comparative analysis of the intrauterine transcriptome in fertile and subfertile mares using cytobrush sampling.
European Journal of Medical Genetics, 63 2 HIF hydroxylase inhibitors decrease cellular oxygen consumption depending on their selectivity. Competition for iron drives phytopathogen control by natural rhizosphere microbiomes. Human Molecular Genetics, Alvara Hofels feet, 24 11 Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.
PLoS Computational Biology, 17 10 :e Parity predicts allonursing in a cooperative breeder. Heredity, 4 Trends in Genetics : Tig, 37 4 Shotgun metagenomics reveals distinct functional diversity and metabolic capabilities between 12 year-old permafrost and active layers on Muot da Barba Peider Swiss Alps, Alvara Hofels feet. PLoS Pathogens, 16 12 :e Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. European Journal of Human Genetics, 23 9 KIAA is mutated in Joubert syndrome.
Human Mutation, 42 12 Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis. Environmental Epigenetics, 4 2 :dvy Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
Genome Research, 25 4 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Expression of Concern to: Diet restriction inhibits apoptosis Alvara Hofels feet HMGB1 oxidation and promotes inflammatory cell recruitment during acetaminophen hepatoxicity.
Journal of Forensic Sciences, 65 4 Phosphoinositide-binding proteins mark, shape and functionally modulate highly-diverged endocytic compartments in the parasitic protist Giardia lamblia. Molecular Ecology, 30 4 Ferreira, Carlos R ; Blau, Nenad Metabolic cardiovascular disease. Sporadic late-onset nemaline myopathy: Alvara Hofels feet characteristics and review of 76 cases.
Part C: Seminars in Medical Genetics, 1 The Ehlers-Danlos syndromes, Alvara Hofels feet, rare types. Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
Molecular Oncology, 14 7 Microbiome-based body site of origin classification of forensically relevant blood traces. Assessment of various efficacy outcomes using ERIVANCE-like criteria in patients with locally advanced basal cell carcinoma receiving sonidegib: results from a preplanned sensitivity analysis.
Molecular Biology and Evolution, 37 3 Evolution, 74 3 Fabry disease genotype, phenotype and migalastat amenability: insights from a Alvara Hofels feet cohort. Clinical Genetics, 90 4 Public Health Genomics, 19 6 American Journal of Human Genetics, 99 3 Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Micrografting device for testing systemic signaling in Arabidopsis.
Chaurasia, Soumya ; Lehner, Christian Sri lanka sxxx vidio Dynamics and control of sister kinetochore behavior during the meiotic divisions in Drosophila spermatocytes. Mycorrhiza, 31 5 Birch, Joanne L ; Kocyan, Alexander Biogeography of the monocotyledon astelioid clade Asparagales : A history of long-distance dispersal and diversification with emerging habitats. Journal of Medical Genetics, 52 8 Molecular diversity and associated phenotypic spectrum of germline CBL mutations.
Heredity, 6 Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs. Microbiology Resource Announcements, 9 29 :e Genes, 11 7 Genetically encoded betaxanthin-based small-molecular fluorescent reporter for mammalian cells. The Caenorhabditis elegans Alvara Hofels feet of the Evi1 proto-oncogene, egl, Alvara Hofels feet, coordinates G1 cell cycle arrest with pro-invasive gene expression during anchor cell invasion, Alvara Hofels feet.
Annals of Human Biology, 48 4 Gao, Bo ; Baudis, Michael Declining lamin B1 expression mediates age-dependent decreases of hippocampal stem cell activity. Human Gene Therapy. Genetics, 19 7 High mutation rates limit evolutionary adaptation in Escherichia coli. Human Mutation, 41 12 Noradrenaline signaling in the LPBN mediates amylin's and salmon calcitonin's hypophagic effect in male rats. Three-dimensional chromosome organization in flowering plants. Twin Research and Human Genetics, 18 2 A large-scale, in Alvara Hofels feet transcription factor screen defines bivalent chromatin as a key property of regulatory factors mediating Drosophila wing development.
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Journal of Medical Genetics, 55 4 Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genes, 8 7 American Journal of Human Genetics, 1 PLoS Genetics, 13 7 :e Cysteamine revisited: repair of arginine to cysteine mutations.
Journal of Molecular Medicine, 94 2 The bromodomain inhibitor N-methyl pyrrolidone reduced fat accumulation in an ovariectomized rat model. Landfried, Britta ; Grimm, C Medizinische Genetik Non-random chromosome arrangement in triploid endosperm nuclei. Journal of Inherited Metabolic Disease, 41 3 Wevers, Ron A ; Blau, Nenad Think big — think omics. Clinical Genetics, Alvara Hofels feet, 98 6 Acetate and glycerol are not uniquely suited for the evolution of cross-feeding in E.
PLoS Computational Biology, 16 11 :e From in vitro towards in situ: structure-based investigation of ABC exporters by electron paramagnetic resonance spectroscopy. Environmental DNA, 3 6 San Roman, Magdalena ; Wagner, Andreas Diversity begets diversity during community assembly until ecological limits impose a diversity ceiling.
International journal of molecular medicine, Alvara Hofels feet, Alvara Hofels feet 2 Genes, 11 1 :E Cell Stem Cell, 26 1 Ismail, Sascha A ; Kokko, Hanna An analysis of mating biases in trees. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 39 3 Separase is required for homolog and sister disjunction during drosophila melanogaster male meiosis, Alvara Hofels feet, but not for biorientation of sister centromeres.
BMC Medical Alvara Hofels feet, 18 1 DNA methylation profiles of elderly individuals subjected to indentured childhood labor and trauma. Pulmonary mesenchymal stem cells are engaged in distinct steps of host response to respiratory syncytial virus infection, Alvara Hofels feet. Haemophilia, 24 4 :ee Human Mutation, 39 7 Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Methane emission, metabolism, and performance of Holstein dairy cows with low, medium, and high lymphocyte proliferation during transition, Alvara Hofels feet.
Neurogenetics, 16 2 No association between the ALDH2 promoter polymorphism rs, alcohol dependence, and risky alcohol consumption in a German population. The NLR-annotator tool enables annotation of the intracellular immune receptor repertoire.
BMC Cancer, 21 1 Genetics, 4 :iyab The origin of the legumes is a complex paleopolyploid phylogenomic Alvara Hofels feet closely associated with the Cretaceous—Paleogene K—Pg mass extinction event. Journal of Medical Genetics, 53 6 N 8 -acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Microbiology Resource Announcements, 9 33 :e Schweizer, Gabriel ; Wagner, Alvara Hofels feet, Andreas Genotype networks of 80 quantitative Arabidopsis thaliana phenotypes reveal phenotypic evolvability despite pervasive epistasis.
Mortality in Joubert syndrome, Alvara Hofels feet. Evolutionary Applications, 13 7 The Plant Journal, 5 Journal of Cardiovascular Translational Research, 13 4 Kappler, Katharina ; Hennet, Thierry Emergence and significance Alvara Hofels feet carbohydrate-specific antibodies. Alvara Hofels feet capture of nuclear genes resolves evolutionary relationships in the mimosoid legumes and reveals the polytomous origins of a large pantropical radiation.
Human Mutation, 36 9 Neuromuscular Disorders : NMD, 25 9 Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria, Alvara Hofels feet. Overlapping functions and protein-protein interactions of LRR-extensins in Arabidopsis, Alvara Hofels feet.
Alvara Hofels feet of Mammalogy, 1 Dasmeh, Pouria ; Wagner, Andreas Molecular Biology and Evolution, 38 3 SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. PLoS Genetics, 11 10 Alvara Hofels feet Cardiovascular Genetics, 8 5 Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
FEBS letters, Behavioral Sciences, 10 11 Draft genome sequences of two clostridium algidicarnis strains isolated from meat juice samples of chilled vacuum-packed lamb meat. American Journal of Botany, 12 Inferring B cell specificity for vaccines using a Bayesian mixture model. PheLeu p. Monoallelic mutations in Alvara Hofels feet translation initiation codon of KLHL24 cause skin fragility, Alvara Hofels feet. Alvara Hofels feet Mutation, 37 5 Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.
The genomic basis of evolutionary innovation in pseudomonas aeruginosa. Cardiovascular Genetics, 8 1 Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Targeting the autosomal Ceratitis capitata transformer gene using Cas9 or dCas9 to masculinize XX individuals without inducing mutations. Draft genome sequences of two phylogenetically distinct clostridium gasigenes strains, CM and CM, isolated from chilled vacuum-packed meat. Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study.
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria. Journal of Community Genetics, 9 2 Heterogeneous clinical spectrum of DNAJCdeficient hyperphenylalaninemia: from attention deficit to Tripty polok dystonia and intellectual Alvara Hofels feet. Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Tandem repeat variation in Alvara Hofels feet and great ape populations and its impact on gene expression divergence. Human Mutation, 41 5 Cre-mediated, loxP independent sequential recombination of a tripartite transcriptional stop cassette allows for partial read-through transcription. Alvara Hofels feet, 9 7 :E Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
The trans-ancestral genomic architecture of glycemic traits. Chromosoma, 1 Functional characterization Turion teacher and student missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Human Mutation, 36 6 A potential contributory role for ciliary dysfunction in the 16p American Journal of Human Genetics, 96 5 Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
The Plant Journal, 1 Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase MTHFR deficiency, Alvara Hofels feet. BMC Genetics, 21 Suppl 2 The relative risk of second primary cancers in Switzerland: a population-based retrospective cohort study. Molecular Medicine, 26 1 Structural and functional diversity calls for a new classification of ABC transporters.
Molecular Ecology, Alvara Hofels feet, 29 1 Lutz, Thomas A An overview of rodent models of obesity and Type 2 diabetes. Molecular Biology and Evolution, 38 10 PLoS Computational Biology, 17 9 :e Quorum sensing governs a transmissive Legionella subpopulation at the pathogen vacuole periphery. Detection of rare reciprocal RUNX1 rearrangements by next-generation sequencing in acute myeloid leukemia. Conservation Genetics, 22 2 Functional foot trimming to balance load distribution between the paired forelimb claws in dairy cows: An experimental study, Alvara Hofels feet.
Mechanisms of mutational robustness in transcriptional regulation. BMC Genomics, 22 1 Comprehensive quantitative characterization of the human term amnion proteome.
Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema. Genetics in Medicine, 20 9 Journal of Cardiovascular Translational Research, 11 6 Genetics in Medicine, 20 2 Mutations and common variants in the human arginase 1 ARG1 gene: Impact on patients, diagnostics, and protein structure considerations.
Heredity, 2 Loss-of-function mutations in YY1AP1 lead to grange syndrome and a fibromuscular dysplasia-like vascular disease. Haller, Otto ; Kochs, Georg Mx genes: host determinants controlling influenza virus infection and trans-species transmission. In: Weissig, V ; Edeas, M. Mitochondiral Medicine. EMBO Alvara Hofels feet, 22 12 :e Panagopoulos, Andreas ; Altmeyer, Matthias PLoS Pathogens, 17 12 :e A cis-regulatory element promoting increased transcription at low temperature in cultured ectothermic Drosophila cells.
Genetics, 3 :iyaa Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing. PLoS Pathogens, 16 7 :e Draft genome sequence of Psychrobacter okhotskensis strain A, isolated from a raw cured ham storage crate, Alvara Hofels feet.
Conservation Genetics Resources, 12 4 Retraction Note: Diet restriction inhibits apoptosis Xx hot sexy video girl HMGB1 oxidation and promotes inflammatory cell recruitment during acetaminophen hepatotoxicity. PLoS Genetics, 11 1 :e Single-cell and multivariate approaches in genetic perturbation screens. A conserved role for Syntaxin-1 in pre- and post-commissural midline axonal guidance in fly, chick, and Alvara Hofels feet. Human Genetics, 1 Haemophilia, Alvara Hofels feet, 21 1 Variants in CUL4B are associated with cerebral malformations.
Evolutionary Applications, 13 8 Single residues in the LRR domain of the wheat PM3A immune receptor can control the strength and the spectrum of the immune response.
EMBO Reports, 22 10 :e Ancient lineages of arbuscular mycorrhizal fungi provide little plant benefit. European Journal of Human Genetics, 26 2 Genuine participation in participant-centred research initiatives: the rhetoric and the potential reality.
Briefings in Functional Genomics, 19 2 Genome Medicine, 12 1 Cell Stem Cell, 26 3 The Plant Journal, 6 Clinical Genetics, 97 3 Differential gene expression profiling of one- and two-dimensional apogamous gametophytes of the fern Dryopteris affinis ssp. European Journal of Medical Genetics, 60 9 Oxford University Press, Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.
PLoS Pathogens, 17 7 :e A coumarin exudation pathway mitigates Alvara Hofels feet mycorrhizal incompatibility in Arabidopsis thaliana. Robinson, Mark D ; Pelizzola, Mattia Computational epigenomics: challenges and opportunities. Journal of Molecular Medicine Blau, Nenad Genetics of phenylketonuria: then and now.
Egyptian Journal of Medical Human Genetics, 17 3 Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. Contained Mycobacterium tuberculosis infection induces concomitant and heterologous protection.
Posttranscriptional regulation controls calretinin expression in malignant pleural mesothelioma. The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Nature Genetics, 52 3 A chromatin scaffold for DNA damage recognition: how histone methyltransferases prime nucleosomes for repair of ultraviolet light-induced lesions.
Computational and Structural Biotechnology Journal, Quo vadis now: Beyond genomics to an era of personalised medicine. The ultrastructure of infectious L-type bovine spongiform encephalopathy prions constrains molecular models, Alvara Hofels feet. Cytotherapy, 18 1 Haemophilia, 22 1 Genes and immunity, 17 2 Public Health Genomics, 19 3 Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
Genomics, 4 Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. Genes, Chromosomes and Cancer, 59 11 Schmutzer, Alvara Hofels feet, Michael ; Wagner, Andreas Gene expression noise can promote the fixation of beneficial mutations in fluctuating environments, Alvara Hofels feet.
Genes and immunity, 21 4 Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. Microbiology Resource Announcements, 10 34 :e Functional genomics atlas of synovial fibroblasts defining rheumatoid arthritis heritability.
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes. Human Molecular Genetics, Alvara Hofels feet, 24 22 Bohacek, Johannes ; Mansuy, Isabelle M Molecular insights into transgenerational non-genetic inheritance of acquired behaviours. Journal of Cardiovascular Translational Alvara Hofels feet, 10 2 PLoS Genetics, 13 3 :e Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.
Neotropical mammal diversity and the Great American Biotic Interchange: spatial and temporal variation in South America's fossil record. Privacy-preserving genomic testing in the clinic: a model using HIV treatment.
Genome Research, Alvara Hofels feet, 25 11 The phenotypic spectrum of organic acidurias and urea cycle disorders. Evolution, 74 5 Oncogene, 39 20 Psychiatric presentations. Microbiology Resource Announcements, 9 42 :e Koch, Eva L ; Guillaume, Frederic Restoring ancestral phenotypes is a general pattern in gene expression evolution during adaptation to new environments in Tribolium castaneum.
EMBO Reports, 21 12 Tiberi, Simone ; Robinson, Mark D Cell Alvara Hofels feet genome scans of DNA methylation divergence indicate an important role for transposable elements. Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Biochimica et Biophysica Acta. Nature Genetics, 53 1 Changes in epigenetic profiles throughout early childhood and their relationship to the response to pneumococcal vaccination.
Nucleic Acids Research, 48 9 Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. Journal of Dairy Science, Alvara Hofels feet, 7 Image guidance in radiation therapy for better cure of cancer. Human Genetics, Omics : a journal of integrative biology, 24 6 Georgi, Fanny ; Greber, Urs F The Adenovirus Death Protein — A small membrane protein controls cell lysis and disease.
Expression of the wheat disease resistance gene Lr34 in transgenic barley leads to accumulation of abscisic acid at the leaf tip. European Journal of Human Genetics, 23 4 Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Forensic transcriptome analysis using massively parallel sequencing. Evolution, 74 12 Alvara Hofels feet morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. The Arabidopsis pattern recognition receptor EFR enhances fire blight resistance in apple.
Genomics, 5 Projecting introgression from domestic cats into European wildcats in the Swiss Jura, Alvara Hofels feet. Quantitative genetics identifies cryptic genetic variation involved in the paternal regulation of seed development, Alvara Hofels feet. Predicting colorectal cancer risk from adenoma detection via a two-type branching process model. Pellegrino, Stefania ; Altmeyer, Matthias Ferrari, Stefano ; Gentili, Christian Maintaining genome stability in defiance of mitotic DNA damage.
In: Brown, Steven A. Circadian Clocks : Methods and Protocols. Human Molecular Genetics, 27 15 Naxos disease: from the origin to today. American Alvara Hofels feet of Human Genetics, 99 6 Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome.
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice. Clinical Epigenetics, 8 1 :online. Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria. Molecular Therapy, 29 8 Genome Biology and Evolution, 13 8 :evab Ultralong Oxford Nanopore reads enable the development of a reference-grade perennial ryegrass genome assembly.
Anchor away — A fast, reliable and reversible technique to inhibit proteins in Drosophila melanogaster. Journal of Molecular Medicine, 93 12 An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.
Molecular Case Studies, 3 6 :a The complete European guidelines on phenylketonuria: diagnosis and treatment. In search of genetic constraints limiting the evolution of egg size: direct and correlated responses to artificial selection on a prenatal maternal effector. Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, Alvara Hofels feet of clinical mutations on enzyme functionality, and structural considerations.
Haemophilia, 23 4 Haemophilia, 23 4 :ee STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. European Journal Alvara Hofels feet Human Genetics, 28 12 Ready-to-use workflows for the implementation of genetic tools in conservation management.
Part A, Ecological and Integrative Physiology, 7 Mechanism of leaf rust resistance in wheat wild relatives, Triticum monococcum L. Plant Genetic Resources, 19 4 Modularity patterns in mammalian domestication: Assessing developmental hypotheses for diversification. Clinical Epigenetics, 7 1 De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
European Journal of Human Genetics, 29 5 Journal of Inherited Metabolic Disease, 44 3 Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.
Cell Stem Cell, 28 5 Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. Nature Microbiology, 5 8 Erten, E Yagmur ; Kokko, Hanna From zygote to a multicellular soma: Body size affects optimal growth strategies under cancer risk. Antibiotic resistance and persistence—Implications for human health and treatment perspectives. Journal of Medical Genetics, 57 6 Experiences and views of different key stakeholders on the feasibility Zentra treating cancer-related fatigue.
Molecular Ecology, 30 13 Degradation of human mRNA transcripts over time as an indicator of the time since deposition TsD in biological crime scene traces. PLoS Genetics, 14 5 :e Multiomics tools for the diagnosis and treatment of rare neurological disease.
Genes, 12 1 :E Journal of Inherited Metabolic Disease, Brown, Steven A ; Sinues, Pablo Circadian Metabolomics from Breath. Rare heterozygous GDF6 variants in patients with renal anomalies, Alvara Hofels feet.
Molecular Ecology Resources, 21 7 Ecology drives the evolution of diverse social strategies in Pseudomonas aeruginosa. Methods, 26 5 MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation. Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Archaeogenetics in evolutionary medicine, Alvara Hofels feet.
Genetics in Medicine, 18 10 Kinetic mutations in argininosuccinate Alvara Hofels feet deficiency: characterisation and in vitro correction by substrate supplementation. FL variant: Natural history in males. Stritt, Christoph ; Roulin, Anne C Plant transposable elements.
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PLoS Genetics, 13 12 :e An integrative strategy to identify the entire protein coding Alvara Hofels feet of prokaryotic genomes by proteogenomics. Urea cycle disorders. PLoS Genetics, 14 4 :e Transgenerational inheritance of behavioral and metabolic effects of paternal exposure to traumatic stress in early postnatal life: evidence in the 4th generation.
Nucleic Acids Research, 48 12 :ee Molecular Therapy, 28 7 Cell Stem Cell, 27 1 Hind limb conformation has limited influence on claw load distribution in dairy cows, Alvara Hofels feet.
Effect of genomic deficiencies on sexual size dimorphism through modification of developmental time in Drosophila melanogaster. Gysin, Tina ; Kowalewski, Mariusz P Reproduction, Fertility and Development, 33 18 Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction. Journal of Medical Genetics, 58 7 Crystal structures of HER3 extracellular domain 4 in complex with the designed ankyrin-repeat protein D5.
Acta Crystallographica. Ecological causes of fluctuating natural selection on habitat choice in an amphibian. Human Molecular Genetics, Alvara Hofels feet, 24 24 Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Neurology Genetics, 2 6 :e The German TwinLife Study. Twin Research and Human Genetics, 19 6 Genes, 7 11 Mutations in CRADD result in reduced caspasemediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant.
Clinical Genetics, 91 3 Alvara Hofels feet international classification of the Ehlers-Danlos syndromes. Molecular Ecology, Alvara Hofels feet, 29 20 Journal of Cardiovascular Translational Research, 13 5 Aberrant computational mechanisms of social learning and decision-making in schizophrenia and borderline personality disorder.
Plant Physiology, 4 Is stress related to the presence and persistence of oncogenic human papillomavirus infection in young women? Systematic Biology, 70 3 Adaptation to elevation but limited local adaptation in an amphibian. Genes, 12 7 Molecular Biology and Evolution, 38 7 Genes, Live Imaging of Mitochondria Joe/’s fantasie bbw Kidney Tissue.
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EMBO Reports, 21 6 :e DAMEfinder: a method to detect differential allele-specific methylation. Cell Discovery, 7 1 Josh Van Buskirk — Evolution, 75 12 Alvara Hofels feet sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene, Alvara Hofels feet. Journal of Medical Genetics, 54 7 Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
Nucleic Acids Research, 48 3 :ee Structural diversity of B-cell receptor repertoires along the B-cell differentiation axis in humans and mice. Plant molecular biology, Assessing time dependent changes in microbial composition of biological crime scene traces using microbial RNA markers. Genes, Alvara Hofels feet, 12 8 Hantavirus infection-induced B cell activation elevates free light chains levels Alvara Hofels feet circulation.
PLoS Genetics, 16 6 :e Nucleic Acids Research, 48 11 Adenoviruses — Infection, pathogenesis Alvara Hofels feet therapy. Autosomal recessive loci contribute significantly to quantitative variation of male fertility in a dairy cattle population. Part 1: the initial presentation. Investigation of Mitochondrial Alvara Hofels feet Immunofluorescence.
Genome Biology and Evolution, Alvara Hofels feet, 12 7 European Journal of Human Genetics, 28 7 Journal of Inherited Metabolic Disease, 43 4 Genome-wide transcriptomics identifies an early preclinical signature of prion infection.
PLoS Computational Biology, 16 5 :e From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Journal of Inherited Metabolic Disease, 43 2 The evolution of ecological specialization across the range of a broadly distributed marine species. Genome Biology, 21 1 Correction: Immunosuppressive FK treatment leads to more frequent EBV-associated lymphoproliferative disease in humanized mice. EMBO Reports, Alvara Hofels feet, 22 9 :e Microbiology Spectrum, 9 1 :e Metabolic dermatoses. Erratum to: Alvara Hofels feet phenotypic spectrum of organic acidurias and urea cycle disorders.
Journal of Inherited Metabolic Disease, 44 1 Genetic diversity of the cardiopulmonary canid nematode Angiostrongylus vasorum within and between rural and urban fox populations. Multiparametric imaging reveals that mitochondria-rich intercalated cells in the kidney collecting duct have a very high glycolytic capacity.
EMBO Reports, 22 6 :e Behavioral Sciences, Herpes simplex virus co-infection facilitates rolling circle replication of the adeno-associated virus genome. Human Molecular Genetics, 24 9 European Journal of Human Genetics, 23 5 PLoS Genetics, 11 5 :e Mansour-Hendili, Lamisse ; et al Human Mutation A discordant monozygotic-twin approach to potential risk factors for chronic widespread pain in females.
Pheophorbide a may regulate Jasmonate signaling during dark-induced senescence. Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan. American Journal of Human Genetics, 99 2 Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts Poretti-Boltshauser syndrome. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Rsk2 knockout affects emotional behavior in the IntelliCage. Bovine viral diarrhoea virus loses quasispecies diversity rapidly in culture. Genetics in Medicine, 18 8 Familial cancer, 15 1 Direct transplantation of native pericytes from adipose tissue: A new perspective to stimulate healing in critical size bone defects.
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Greber, Urs Alvara Hofels feet FEBS letters, 23 Targeting the "sweet spot" in septic shock - A perspective on the endothelial glycocalyx regulating proteins Heparanase-1 Psycho saiyyan EMBO Reports, 22 11 :e Cell Stem Cell, 28 11 Polanco F. Comparing the performance of 12S mitochondrial primers for fish environmental DNA across ecosystems.
PLoS Genetics, 12 1 :e Regulation and function of SIRT1 in rheumatoid arthritis synovial fibroblasts. Part A, A 3 Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, Alvara Hofels feet, and major depressive disorder.
Dispersal behaviour and riverine network connectivity shape the genetic diversity of freshwater amphipod metapopulations. Drosophila Nnf1 paralogs are partially redundant for somatic and germ line kinetochore function. Journal of Medical Genetics, Alvara Hofels feet, 53 9 Clinical course of 63 patients with neonatal onset urea cycle disorders in the years Orphanet Journal of Rare Diseases, 11 1 Exome sequencing identifies biallelic MSH3 Alvara Hofels feet mutations as a recessive subtype of colorectal adenomatous polyposis.
Molecular Syndromology, 6 2 Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. Microbial Genomics, 6 9 :mgen Molecular Biology and Evolution, 37 9 Journal of Inherited Metabolic Disease, 43 5 Minimum error calibration and normalization for genomic copy number analysis.
Journal of Molecular Medicine, Alvara Hofels feet, 94 5 Peer review fraud-it's not big and it's not clever. Non-Coding RNA, Flanking sequence preference modulates de novo DNA methylation in the mouse genome.
FEBS letters, 12 Freedom of Windy Ntovu in a democratic society: Is there a contradiction between socially desirable science and freedom Alvara Hofels feet research? Evolution Alvara Hofels feet, 5 4 Rare transposable elements challenge the prevailing view of transposition dynamics in plants.
Pharmacogenomics Journal, 21 1 Hyperleptinemia as a contributing factor for the impairment of glucose intolerance in obesity. PLoS Genetics, 13 1 :e European Journal of Human Genetics, e1-e6. American Journal of Human Genetics, 3 EMBO Reports, 22 3 :e Beyond simple kinship and identification. Orphanet Journal of Rare Diseases, 10 21 :online.
Human Molecular Genetics, 24 20 Journal of Molecular Medicine, 93 10 Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy.
Staphylococcus aureus impairs dermal fibroblast functions with deleterious effects on wound healing. European Journal of Human Genetics, 24 2 Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Genetic variance components and heritability of multiallelic heterozygosity under inbreeding. Assessing the potential impact of transmission during prolonged viral shedding on the effect of lockdown relaxation on COVID PLoS Computational Biology, e Identifying the drivers of multidrug-resistant Klebsiella pneumoniae at a European level.
Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder, Alvara Hofels feet. Nosological delineation of congenital ocular motor apraxia type Ť«äºº an observational study.
Molecular Therapy, 29 5 Delineating Alvara Hofels feet clinical spectrum of isolated methylmalonic acidurias: cblA and mut, Alvara Hofels feet. Adverse Epigenetic signatures by histone methyltransferase set7 contribute to vascular dysfunction Alvara Hofels feet patients with type 2 diabetes.
PLoS Computational Biology, 16 2 :e Animal Genetics, 51 1 Accuracy of methane emissions predicted from milk mid-infrared spectra and measured by laser methane detectors in Brown Swiss dairy cows.
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Evolution, 75 4 The Plant Journal, 2 Chromosome-scale genome assembly provides insights into rye biology, Alvara Hofels feet and agronomic potential.
Journal of Molecular Medicine, 95 10 Guidelines for morpholino use in zebrafish, Alvara Hofels feet. Relative qPCR to quantify colonization of plant roots by arbuscular mycorrhizal fungi. Journal of Inherited Metabolic Disease, 38 6 Quo vadis: the re-definition of "inborn metabolic diseases".
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Genetics in Medicine, 20 1 A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP expansion of the clinical and mutational spectrum and description of the natural history.
Plant Transposable Elements. Genes, 6 3 Clinical onset and course, response to treatment and outcome Alvara Hofels feet 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. The role of myoglobin in epithelial cancers: Insights from transcriptomics.
PLoS Pathogens, 16 4 :e Zanoni, Paolo ; von Eckardstein, Arnold Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Journal of Heredity, 7 Nucleic Acids Research, 48 22 Convergent network effects along the axis of gene expression during prostate cancer progression.
Genomics, 2 Aquatic food webs in deep temperate lakes: Key species establish through their autecological versatility. Journal of Zoological Systematics and Evolutionary Research, 58 1 Fabry disease caused by the GLA p, Alvara Hofels feet. A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu Ala peptide bond in the V1 isoform is essential for interdigital web regression.
BH4 deficiency with unusual presentations: Challenges and lessons. Journal of Inherited Metabolic Disease, 39 5 Expanding the clinical and mutational spectrum of the Father punish her virgin teen syndrome, dermatosparaxis type, Alvara Hofels feet. Human Molecular Genetics, 29 12 In: Hancock, Ronald.
Journal of Inherited Metabolic Disease, Alvara Hofels feet 6 Trends in Genetics : Tig, 37 11 Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. PLoS Genetics, 14 6 :e Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Systemic Jak1 activation provokes hepatic inflammation Alvara Hofels feet imbalanced FGF23 production and cleavage.
Human Molecular Genetics, 25 5 Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Dairy Science, 5 Relative importance of isolation-by-environment and other determinants of gene flow in an alpine amphibian. Clinical Genetics, Alvara Hofels feet, 92 2 Molecular Syndromology, 8 5 Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
European Journal of Human Genetics, 24 9 Journal of Medical Genetics, 53 8 MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. Domestication of high-copy transposons underlays the wheat small RNA response to an obligate pathogen.
The first European guidelines on phenylketonuria: Usefulness and implications for BH 4 responsiveness testing. Environmental DNA, Alvara Hofels feet 1 Thieme, Michael ; Roulin, Anne C In: Cho, Jungnam.
Genes, Alvara Hofels feet, Chromosomes and Cancer, 59 4 Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. Haemophilia, 24 2 Human Molecular Genetics, 27 2 Public Health Genomics, 21 Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.
Manipulation of the unfolded protein response: A pharmacological strategy against coronavirus infection, Alvara Hofels feet. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase AADC deficiency.
Genetics, 16 1 Human genetic disorders of sphingolipid biosynthesis. Orphanet Journal of Rare Diseases, 13 1 Can untreated PKU patients escape from intellectual disability? Human Mutation, 37 6 PLoS Genetics, 12 5 :e Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Behavior Genetics, 45 5 Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Journal of Forensic Sciences, 66 5 Large-scale identification Alvara Hofels feet ubiquitination sites on membrane-associated proteins in Arabidopsis thaliana seedlings. Behavior Genetics, 47 4 PLoS Genetics, 12 12 :e De novo mutation in 2 patients with neonatal-onset epilepsy. A systematic review, Alvara Hofels feet.
Molecular Ecology, 30 22 Effects of diets differing in dietary cation-anion difference and calcium concentration on calcium homeostasis in neutered male sheep. Nucleic Acids Research, 48 4 New Genetics and Society, 39 3 Postmortem computed tomography and magnetic resonance imaging of gunshot wounds to the neck.
Clinical Genetics, 93 3 Mid- to long-term results of total ankle replacement in patients with haemophilic arthropathy: A year follow-up. Genetics, 16 11 Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Human Mutation, Alvara Hofels feet, 38 5 Journal of Medical Genetics, 54 12 PLoS Genetics, 13 4 :e Translational challenges in cardiovascular tissue engineering.
American Journal of Human Genetics, 96 2 Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma. Disentangling adaptation from drift in bottlenecked and reintroduced populations of Alpine ibex. Similar reliability and equivalent performance of female and male mice in the open field and water-maze place navigation task. Genome Research, 30 11 Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Journal of Medical Genetics, 52 6 Insights into severe 5,methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients, Alvara Hofels feet. Complete genome sequence of a Rhabdovirus strain from culex mosquitos collected in Southern Switzerland. PLoS Pathogens, 16 2 :e Genes, Alvara Hofels feet, 11 2 Spatially multiplexed Alvara Hofels feet in situ hybridization to reveal tumor Alvara Hofels feet. Molecular Ecology, 30 24 Interplay between ADP-ribosyltransferases and essential cell signaling pathways controls cellular responses.
Ophthalmic Genetics, 39 1 Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly Alvara Hofels feet Rab8-trafficking in zebrafish photoreceptors.
Vitamin B12, folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation. Microbial Genomics, 6 4 :e Planta, Ruffell, Daniela FEBS letters, 7 Human dental pulp stem cells exhibit enhanced properties in comparison to human bone marrow stem cells on neurites outgrowth. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Mycorrhiza, 31 2 Anti-CD immunotherapy to eliminate hematopoietic and leukemia stem cells.
Plant Physiology, 2 CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Orphanet Journal of Rare Diseases, 11 7 :online, Alvara Hofels feet. PLoS Genetics, 16 3 :e The landscape of viral associations in human cancers. Horticulture Research, The performance of common SNP arrays Bokop mami siska assigning African mitochondrial haplogroups.
Genes, 12 9 Draft genome sequences of two clinical actinobacillus pleuropneumoniae serotype 19 strains from pigs in Switzerland. Human Mutation, 39 8 Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
BMC Medical Genomics, Alvara Hofels feet, 10 1 Quantification of muscle pathology in infantile Pompe disease. Prognostic relevance of pre- and postoperative plasma l-lactate measurements in calves with acute abdominal emergencies.
The DNA hypermethylation phenotype of colorectal cancer liver metastases resembles that of the primary colorectal cancers. Human Alvara Hofels feet, 36 8 Growth hormone replacement therapy regulates microRNAa and targets involved in insulin resistance.
Journal of Inherited Metabolic Disease, 41 4 Blood group O: A novel risk factor for increased postpartum blood loss? DNA and cell biology, 39 2 Exaggerated male forelegs are not more differentiated than wing morphology in two widespread sister species of black scavenger flies.
Molecular Ecology, 30 20 Molecular Ecology, 30 19 Familial cancer, Alvara Hofels feet, 20 4 Microbiology Resource Announcements, 10 39 :e Analysis of genomic Alvara Hofels feet from medieval plague victims suggests long-term effect of Yersinia pestis on human immunity genes. Evolution, 75 7 Genome sequence of the cardiopulmonary canid nematode Angiostrongylus vasorum reveals species-specific genes with potential involvement in coagulopathy.
Experimental Hematology, Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome PRPS1 deficiency.
Part C: Seminars in Medical Genetics, 3 FEBS letters, 18 Genome Biology and Evolution, 13 9 :evab The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Genetics in Medicine, 20 6 Journal of Cardiovascular Translational Research, 11 3 Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Part A, 11 Molecular Biology and Evolution, 38 11 PLoS Pathogens, 17 10 :e Assessing the drivers of syphilis among men who have sex with men in Switzerland reveals a key impact of screening frequency: A modelling study, Alvara Hofels feet.
PLoS Genetics, 16 5 :e Human Alvara Hofels feet Genetics, 29 7 Additive and mostly adaptive plastic responses of gene expression to multiple stress in Tribolium castaneum. Molecular Ecology, 29 22 Large tandem duplications affect gene expression, 3D organization, and plant—pathogen response. Identification of HIF-dependent alternative splicing in gastrointestinal cancers and characterization of a long, coding isoform of SLC35A3.
Genes, 12 5 Recent selection of candidate genes for mammal domestication in Europeans and language change in Europe: a hypothesis, Alvara Hofels feet. Journal of Inherited Metabolic Disease, Alvara Hofels feet, 38 1 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Part A, 12 Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Genetic variance Pamel Rios mum fitness and its cross-sex covariance predict adaptation during experimental evolution.
European Journal of Human Genetics, 25 12 Binding of high mobility group A proteins to the mammalian genome occurs as a function of AT-content. Human Mutation, 39 11 Urea cycle disorders in India: clinical course, Alvara Hofels feet, biochemical and genetic investigations, and prenatal testing.
European Journal of Medical Genetics, 61 4 Genes, 9 4 The impact of ammonia levels and dialysis on outcome in patients with neonatal onset urea cycle disorders. Journal of Medical Genetics, 53 10 Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Journal of Dairy Science, 11 Evolutionary history of Hemerocallis in Japan inferred from chloroplast and nuclear phylogenies and levels of interspecific gene flow.
Human Mutation, 38 8 Ghizlane Fadili Schmid, M ; Guillaume, F The role of phenotypic plasticity on population differentiation. Genes and immunity, 21 3 Wong, Mie ; Gilmour, Darren Getting back on track: Alvara Hofels feet canalization to uncover the mechanisms of developmental robustness, Alvara Hofels feet.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Genes, 9 9 Clinical and experimental evidence suggest a link between KIF7 and C5orfrelated ciliopathies through Sonic Hedgehog signaling, Alvara Hofels feet.
Genome Biology and Evolution, 12 11 Sokolowska, Milena Signal Transduction and Targeted Therapy, 5 1 Genomic signatures of convergent adaptation to Alpine environments in three Brassicaceae species. Microbial Genomics, Adaptive gene misregulation, Alvara Hofels feet. American Journal of Human Genetics, 97 6 Hemoglobin, 39 6 Journal of Medical Genetics, 52 12 Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Journal of Inherited Metabolic Disease, 40 4 Haemophilia patients' unmet needs and their expectations of the new extended half-life factor concentrates.
Neuromuscular Disorders : NMD, 27 2 Abnormal creatine transport of mutations in monocarboxylate transporter 12 MCT12 Alvara Hofels feet in patients with age-related cataract can be partially rescued by exogenous chaperone CD Human Molecular Genetics, 26 21 Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. PLoS Computational Biology, 16 10 :e Structures of ABC transporters: handle with care.
PLoS Computational Biology, 16 9 :e Stem Cell Reports, 15 3 Comparative genomic insights into Yersinia hibernica — a commonly misidentified Yersinia enterocolitica-like organism. Nature Genetics, 53 4 Fine scale genetic structure in fire salamanders Salamandra salamandra along a rural-to-urban gradient, Alvara Hofels feet.
BMC Cancer, 20 Wild mice with different social network sizes vary in brain gene expression. Microbiology Resource Announcements, 9 45 :e Impact of transposable elements on Mia kkhalifa and gene expression across natural accessions of Brachypodium distachyon.
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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland. American Journal of Human Genetics, 99 5 Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Journal of Inherited Metabolic Disease, 40 2 Local adaptation mostly remains local: reassessing environmental associations of climate-related candidate SNPs in Arabidopsis halleri.
Chromatin insulators and topological domains: adding new dimensions to 3D genome architecture. The Alvara Hofels feet. Journal of Inherited Metabolic Disease, 39 1 Clinical phenotype, Alvara Hofels feet profile, Alvara Hofels feet, and treatment in 19 patients with arginase 1 deficiency. Journal of Inherited Metabolic Disease, 39 2 Journal of Molecular Medicine, 94 6 High prevalence of BRCA1 stop mutation c.
Neuromuscular Disorders : NMD, 25 3 Genetics in Medicine, 17 8 Perro y mujer Coordinated epigenetic remodelling of transcriptional networks occurs during early breast carcinogenesis.
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PLoS Pathogens, 17 6 :e Mattiroli, Francesca ; Penengo, Lorenza Trends in Genetics : Tig, 37 6 Molecular and metabolic bases of tetrahydrobiopterin BH4 deficiencies.
European Journal Seto himari Medical Genetics, 59 8 Human Mutation, 37 8 Altered skeletal muscle mitochondrial properties in patients with mitochondrial DNA single deletion myopathy, Alvara Hofels feet. Matrix Biology Plus, Conservation Genetics Resources, 13 4 Diagnosis Alvara Hofels feet atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses.
Genetics in Medicine, 17 7 Journal of Cardiovascular Translational Research, 8 5 PLoS Genetics, Alvara Hofels feet, 11 7 :e Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome.
European Journal of Human Genetics, 25 4 FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Human Molecular Genetics, 24 13 Blood ammonia and glutamine as predictors Alvara Hofels feet hyperammonemic crises in patients with urea cycle disorder.
Genetics in Medicine, 18 9 Mutations Brats CEP cause Joubert syndrome as well as complex ciliopathy phenotypes. PLoS Genetics, 12 4 :e A summary Alvara Hofels feet molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. Quality standards in proteomics research facilities: Common standards and quality procedures are essential for proteomics facilities and their users.
Nucleic Acids Research, Alvara Hofels feet, 49 1 Longitudinal analysis of Alvara Hofels feet mutated KRAS and CA predicts survival following curative resection of pancreatic cancer. Heredity, HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
In: Hollak, C ; Lachmann, R. Inherited metabolic disease in adults. Journal of Medical Genetics, 54 1 Journal of Inherited Metabolic Disease, 40 1 Guidelines for the diagnosis and management of cystathionine Alvara Hofels feet deficiency. Journal of Mammalogy, 5 Nucleic Acids Research, 49 18 BRD9 is a druggable component of interferon-stimulated gene expression and antiviral activity.
Immunosuppressive FK treatment leads to more frequent EBV-associated lymphoproliferative disease in humanized mice. Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Molecular Genetics and Metabolism, 2 The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. Complex lipids. Schmeing, Stephan ; Robinson, Mark D ReSeq simulates realistic Illumina high-throughput sequencing data.
Scheckel, Claudia ; Aguzzi, Alvara Hofels feet, Adriano Prions, prionoids and protein misfolding disorders. Genetics in Medicine, 20 12 Registered access: authorizing data access. Orphanet Journal of Rare Diseases, 12 1 Genes, 8 12 :E A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine Dowlondo porn factor activity.
Infection, Genetics and Evolution, How to design optimal eDNA sampling strategies for biomonitoring in river networks. Measuring Circadian Rhythms in Human Cells.
Journal of Inherited Metabolic Disease, 44 4 Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Plant Physiology and Biochemistry, Multiple sclerosis: doubling down on MHC. Trends in Genetics : Tig, 37 9 Network-based analysis using chromosomal microdeletion syndromes as a model.
Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia.
Psychiatric Genetics, 25 1 Hornemann, Thorsten Palmitoylation and depalmitoylation defects. RSPO3 impairs barrier function of human vascular endothelial monolayers and synergizes with pro-inflammatory IL Molecular Medicine Unusual retinopathy in a child with severe combined immune deficiency.
Human Molecular Genetics, Alvara Hofels feet, 25 7 Pathway analysis in attention Skibiditoilet hyperactivity disorder: An ensemble approach. Human Mutation, 36 1 Orphanet Journal of Rare Diseases, 10 :online. Human Mutation, Alvara Hofels feet, 37 7 B-cell repertoire dynamics after sequential hepatitis B vaccination and evidence for cross-reactive B-cell activation. Environmental Microbiome, Molecular dynamics analysis of the structural properties of the transglutaminases of Kutzneria albida and Streptomyces mobaraensis.
European Journal of Human Genetics, 26 12 In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. Phenotype and genotype Alvara Hofels feet 87 patients with Mowat-Wilson syndrome and recommendations for care.
Human Mutation, 39 3 Clinical sequencing: From raw data to diagnosis with lifetime value. Genome Research, 27 12 Alvara Hofels feet of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Journal of Dairy Science, 2 Aldosterone controls JAV S nxxxz cilium length and cell size in renal collecting duct principal cells.
Journal of Inherited Metabolic Disease, 38 5 Human Molecular Genetics, 24 17 Alterations of glucocorticoid receptor gene methylation in externalizing disorders during childhood and adolescence.
Part 2: the evolving clinical phenotype. G3 : Genes, Genomes, Genetics, 10 5 Molecular Ecology, 29 9 Journal of Forensic Sciences, 65 3 Evolution and function of interleukin-4 receptor signaling in adaptive immunity and neutrophils. PLoS Computational Biology, 16 8 :e Microbiology Resource Announcements, 9 32 :e EMBO Reports, 21 8 :e Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM ataxia-telangiectasia mutated gene.
PLoS Pathogens, 17 8 :e Microbiology Resource Announcements, 10 31 :e Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. PLoS Genetics, 13 10 :e G3 : Genes, Genomes, Genetics, Alvara Hofels feet, 7 9 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation, Alvara Hofels feet.
PLoS Computational Biology, 16 3 :e Population-based SEER analysis of survival in colorectal cancer patients with or without resection of lung and liver metastases. Current Opinion in Lipidology, 31 2 Numminen, Elina ; Laine, Anna-Liisa The spread of a wild plant pathogen is driven by the road network. Conservation laws by virtue of scale symmetries in neural systems, Alvara Hofels feet. Microbiology Resource Announcements, 10 1 Alvara Hofels feet The micro-RNA content of unsorted cryopreserved bovine sperm and its relation to the fertility of sperm after sex-sorting.
American Journal of Botany, 8 Eichenberger, Ramon M Parasite Genomics : Methods and Protocols.