Jeremy Schwartzentruber
European Bioinformatics Institute
87 papers found
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Download from www.ncbi.nlm.nih.govAn N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Download from europepmc.orgTwo cases of congenital myasthenic syndrome with vocal cord paralysis
Download from www.ncbi.nlm.nih.govBiallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Download from cancerdiscovery.aacrjournals.orgDisrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
Download from dx.doi.orgFORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
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