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- 2023
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Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity
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- Contribution to journal › Article
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Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets
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- Contribution to journal › Article
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A cloud-based resource for genome coordinate-based exploration and large-scale analysis of chromosome aberrations and gene fusions in cancer
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- Contribution to journal › Article
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A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes
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- Contribution to journal › Article
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HNF1B variant without hyperglycaemia as a cause of isolated profound hypomagnesaemia
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- Contribution to journal › Article
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Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia : Associations with chromosome 21 gains and SH2B3 mutations
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- Contribution to journal › Letter
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A practical approach to curate clonal hematopoiesis of indeterminate potential in human genetic data sets
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- Contribution to journal › Article
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Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia
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- Contribution to journal › Article
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Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation
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- Contribution to journal › Article
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The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
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- Contribution to journal › Article
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Evaluation of genetic demultiplexing of single-cell sequencing data from model species
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- Contribution to journal › Article
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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
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- Contribution to journal › Article
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The Swedish COG6-CDG experience and a comprehensive literature review
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- Contribution to journal › Article
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Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
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- Contribution to journal › Article
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Rare-variant collapsing analyses of arterial hypertension in the UK biobank
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- Contribution to journal › Letter