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「"Frazer KA "[Author]」の検索結果

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Mutations in topoisomerase IIβ result in a B cell immunodeficiency.

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

Pancreatic islet chromatin accessibility and conformation reveals distal enhancer networks of type 2 diabetes risk.

Activation of Hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia.

Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression.

Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke.The TromsØ Study.

A large-scale exome array analysis of venous thromboembolism.

Identification of Common and Rare Genetic Variation Associated With Plasma Protein Levels Using Whole-Exome Sequencing and Mass Spectrometry.

Cell-Surface Marker Signature for Enrichment of Ventricular Cardiomyocytes Derived from Human Embryonic Stem Cells.

Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.

IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Discovery of novel plasma biomarkers for future incident venous thromboembolism by untargeted synchronous precursor selection mass spectrometry proteomics.

Publisher Correction: PTEN regulates glioblastoma oncogenesis through chromatin-associated complexes of DAXX and histone H3.3.

Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: The Tromsø Study.

Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling.

Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.

Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.

Glioblastoma cellular cross-talk converges on NF-κB to attenuate EGFR inhibitor sensitivity.

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