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Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Download from ashpublications.orgAbnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
UploadontologyX: a suite of R packages for working with ontological data
Download from academic.oup.comThe Human Phenotype Ontology in 2017.
Download from doi.orgAltered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Download from ashpublications.orgPhenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Download from www.ncbi.nlm.nih.govA gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
Download from ashpublications.orgA comparative study of RNA-seq analysis strategies
Download from www.ncbi.nlm.nih.govHybrid Mice Reveal Parent-of-Origin and Cis- and Trans-Regulatory Effects in the Retina
Download from dx.doi.orgFlexible analysis of RNA-seq data using mixed effects models
Download from academic.oup.comHaplotype and isoform specific expression estimation using multi-mapping RNA-seq reads
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