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Genetic diagnosis of Mendelian disorders via RNA sequencing
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder
Abstract 12059: Incidental Findings in Cardiomyopathy and Channelopathy Genes Among 5891 Individuals Undergoing Whole-exome Sequencing. What Should be Reported?
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
