Vincent Plagnol
University of Southern California
123 papers found
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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Download from www.nature.comAtlas of the clinical genetics of human dilated cardiomyopathy.
Download from academic.oup.comNeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases
Download from www.ncbi.nlm.nih.govBayesian mixture analysis for metagenomic community profiling
Download from academic.oup.comRAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy
Download from academic.oup.comWidespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy
Download from doi.orgBiallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
Download from www.ncbi.nlm.nih.govParkinson's disease in GTP cyclohydrolase 1 mutation carriers
Download from doi.orgA Homozygous Mutation in theTUBGene Associated with Retinal Dystrophy and Obesity
Download from onlinelibrary.wiley.comProfilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Download from discovery.ucl.ac.ukClinical characteristics of early retinal disease due to CDHR1 mutation
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