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American Journal of Human Genetics|November 1, 1978
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotesT Yutaka, A L Fluharty, R L Stevens, et al.American Journal of Human Genetics|March 11, 2000
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locusJ B Vincent, M L Neves-Pereira, A D Paterson, et al.American Journal of Human Genetics|March 11, 2000
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding proteinA Hinek, A C Smith, E M Cutiongco, et al.American Journal of Human Genetics|June 12, 1999
Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasiaP Holden, E G Canty, G R Mortier, et al.American Journal of Human Genetics|June 12, 1999
Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 geneV Satre, N Monnier, F Berthoin, et al.American Journal of Human Genetics|June 12, 1999
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22L M Boon, P Brouillard, A Irrthum, et al.American Journal of Human Genetics|June 12, 1999
The gene for cherubism maps to chromosome 4p16.3J Mangion, N Rahman, S Edkins, et al.American Journal of Human Genetics|June 12, 1999
The gene for cherubism maps to chromosome 4p16V Tiziani, E Reichenberger, C L Buzzo, et al.American Journal of Human Genetics|June 12, 1999
Patterns of instability of expanded CAG repeats at the ERDA1 locus in general populationsR Deka, S Guangyun, J Wiest, et al.American Journal of Human Genetics|June 12, 1999
Methods for detection of parent-of-origin effects in genetic studies of case-parents triadsC R WeinbergPageof 979