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American Journal of Medical Genetics|December 30, 1996
Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomyV Tonk, R A Schultz, S L Christian, et al.American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.American Journal of Medical Genetics|January 31, 1997
Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2)T L Alley, S W Scherer, J J Huizenga, et al.American Journal of Medical Genetics|January 31, 1997
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndromeA Honda, G S Tint, G Salen, et al.American Journal of Medical Genetics|January 31, 1997
Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometryA Honda, A K Batta, G Salen, et al.American Journal of Medical Genetics|January 31, 1997
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)E R Elias, M B Irons, A D Hurley, et al.American Journal of Medical Genetics|January 31, 1997
New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic faceN Okamoto, F Matsumoto, K Shimada, et al.American Journal of Medical Genetics|January 31, 1997
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorderA E Chudley, C McCullough, D W McCulloughAmerican Journal of Medical Genetics|January 31, 1997
Clinical and locus heterogeneity in brachydactyly type CN H Robin, M Gunay-Aygun, A Polinkovsky, et al.Pageof 854