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Journal of Medical Genetics|January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?S Lyonnet, G Schwartz, G Gatin, et al.Journal of Medical Genetics|March 1, 1992
Distal spinal muscular atrophy with vocal cord paralysisC Pridmore, M Baraitser, E M Brett, et al.Journal of Medical Genetics|March 1, 1992
Unusual occurrence of cervical myelopathy in a case of Stickler's syndromeS Noël, D Balériaux, N Telerman-ToppetJournal of Medical Genetics|January 7, 2005
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndromeJ D Hoffman, Y Zhang, J Greshock, et al.Journal of Medical Genetics|January 7, 2005
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotypeM Font-Llitjós, M Jiménez-Vidal, L Bisceglia, et al.Journal of Medical Genetics|January 7, 2005
A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testingJ W Cardinal, L Bergman, N Hayward, et al.Journal of Medical Genetics|August 1, 1992
Hereditary haemorrhagic telangiectasia: a clinical analysisM E Porteous, J Burn, S J ProctorJournal of Medical Genetics|August 1, 1992
Racial distribution of Duchenne muscular dystrophy in the West Midlands region of BritainA Roddie, S BundeyJournal of Medical Genetics|August 1, 1992
Congenital hydrocephalus secondary to Walker-Warburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophyC R Greenberg, H K Jacobs, T E Nylen, et al.Journal of Medical Genetics|June 29, 2005
Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white womenB G Haffty, A Silber, E Matloff, et al.Pageof 649