Alternative splicing of helicase-like transcription factor (Hltf): Intron retention-dependent activation of immune tolerance at the feto-maternal interface
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers
Prion gene paralogs are dispensable for early zebrafish development but have non-additive roles in seizure susceptibility
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
Multicolour lineage tracing reveals clonal dynamics of squamous carcinoma evolution from initiation to metastasis
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection