Showing results (101-110 of 117) with videos related to
Sort By:
Pageof 12
Human Molecular Genetics|April 1, 1996
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?A Pandya, X J Xia, B L Landa, et al.Molecular Genetics and Metabolism|June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.Human Mutation|January 4, 2001
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathiesM M Sohocki, S P Daiger, S J Bowne, et al.American Journal of Medical Genetics|March 8, 2000
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndromeP J Ferguson, S H Blanton, F T Saulsbury, et al.American Journal of Medical Genetics. Part A|June 9, 2012
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfootW Lu, C A Bacino, B S Richards, et al.American Journal of Medical Genetics. Part A|November 12, 2005
Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyeloceleK-S Au, H Northrup, T J Kirkpatrick, et al.Human Molecular Genetics|September 15, 1999
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosaS J Bowne, S P Daiger, M M Hims, et al.Human Molecular Genetics|May 1, 1994
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4pC A Francomano, R I Ortiz de Luna, T W Hefferon, et al.Clinical Genetics|September 5, 2001
Haplotype analysis of the USH1D locus and genotype-phenotype correlationsX Z Liu, S H Blanton, M Bitner-Glindzicz, et al.Clinical Genetics|September 9, 2015
A Mayan founder mutation is a common cause of deafness in GuatemalaC Carranza, I Menendez, M Herrera, et al.Pageof 12