Genetic and Genomic Medicine
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De novovariants inPLCG1are associated with hearing impairment, ocular pathology, and cardiac defects
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Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank
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Explaining the counter-intuitive effectiveness of trophectoderm biopsy for PGT-A using computational modelling
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Allelic strengths of encephalopathy-associatedUBA5variants correlate betweenin vivoandin vitroassays
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Novel discoveries and enhanced genomic prediction from modelling genetic risk of cancer age-at-onset
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Multi-omics analysis in human retina uncovers ultraconservedcis-regulatory elements at rare eye disease loci
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Trumpet plots: Visualizing The Relationship Between Allele Frequency And Effect Size In Genetic Association Studies
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Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings
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Association betweenAPOL1risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study
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Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B
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