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Human Molecular Genetics|June 9, 1998
Molecular analysis of the PDS gene in Pendred syndromeB Coyle, W Reardon, J A Herbrick, et al.Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractF R Goodman, S Mundlos, Y Muragaki, et al.American Journal of Human Genetics|July 27, 1999
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneA Colige, A L Sieron, S W Li, et al.Journal of Medical Genetics|February 1, 1997
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkageE Gausden, B Coyle, J A Armour, et al.Clinical Radiology|May 19, 1998
Radiological malformations of the ear in Pendred syndromeP D Phelps, R A Coffey, R C Trembath, et al.Journal of Medical Genetics|January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?W Reardon, A Smith, J W Honour, et al.European Journal of Human Genetics : EJHG|February 15, 2001
Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.Nature Genetics|December 8, 1998
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesisA J Ross, V Ruiz-Perez, Y Wang, et al.Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.Pageof 16