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Clinical Genetics|July 13, 2010
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disordersA M Innes, K M Boycott, E G Puffenberger, et al.The New England Journal of Medicine|May 1, 1998
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathyH Niimura, L L Bachinski, S Sangwatanaroj, et al.The Journal of Pediatrics|January 1, 1991
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindredsJ C Haworth, F A Booth, A E Chudley, et al.Hepatology (Baltimore, Md.)|November 1, 1995
Primary sclerosing cholangitis in 32 children: clinical, laboratory, and radiographic features, with survival analysisM Wilschanski, P Chait, J A Wade, et al.Chronic Diseases and Injuries in Canada|March 15, 2012
Correlates of age at diagnosis of autism spectrum disorders in six Canadian regionsH Coo, H Ouellette-Kuntz, M Lam, et al.American Journal of Medical Genetics. Part A|July 3, 2003
Bowen-Conradi syndrome: a clinical and genetic studyR B Lowry, A M Innes, F P Bernier, et al.American Journal of Medical Genetics. Part A|February 13, 2009
Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disabilityC Tyson, A J Dawson, S Bal, et al.American Journal of Human Genetics|June 13, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang, W Guo, R L Wagner, et al.Pageof 11