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American Journal of Human Genetics|November 1, 1995
Comparative genomic hybridization in clinical cytogeneticsT Bryndorf, M Kirchhoff, H Rose, et al.American Journal of Human Genetics|July 1, 1993
Monoclonal antibodies against the muscle-specific N-terminus of dystrophin: characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7T T Le, T M Nguyen, D R Love, et al.American Journal of Human Genetics|July 1, 1993
HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controlsI Kockum, R Wassmuth, E Holmberg, et al.American Journal of Human Genetics|July 1, 1993
Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13J M Puck, M E Conley, L C BaileyAmerican Journal of Human Genetics|July 1, 1993
Tandem-repeat internal mapping (TRIM) of the involucrin gene: repeat number and repeat-pattern polymorphism within a coding region in human populationsA Urquhart, P GillAmerican Journal of Human Genetics|July 1, 1993
Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genesC Boileau, G Jondeau, M C Babron, et al.American Journal of Human Genetics|July 1, 1993
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)J Körkkö, P Ritvaniemi, L Haataja, et al.American Journal of Human Genetics|July 1, 1993
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspringD M Milewicz, A M Witz, A C Smith, et al.American Journal of Human Genetics|July 1, 1993
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsinJ P Macke, C M Davenport, S G Jacobson, et al.American Journal of Human Genetics|August 1, 1993
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genesD F Easton, M A Ponder, S M Huson, et al.Pageof 979