Vincent Plagnol
University of Southern California
123 papers found
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A common single-nucleotide variant in T is strongly associated with chordoma
Download from www.researchgate.netUse of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
Download from www.ncbi.nlm.nih.govExome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Download from europepmc.orgStudy of the genetic variability in a Parkinson's Disease gene: EIF4G1
Download from www.ncbi.nlm.nih.govRHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Download from doi.orgExome sequencing identifies MPL as a causative gene in familial aplastic anemia
Download from dx.doi.orgBiallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina
Download from www.ncbi.nlm.nih.govInflammatory Skin and Bowel Disease Linked toADAM17Deletion
Download from edoc.mdc-berlin.deExome sequencing in a family segregating for celiac disease
Download from www.researchgate.netFine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Download from doi.orgVariants génétiques associés au diabète de type 1 et contrôle de l’expression du récepteur de l’IL-2
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