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Human Genetics|June 1, 1991
The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]L Hills, E Earle, M Wilson, et al.Pediatric Research|May 1, 1977
Metabolic studies on two patients with nonhepatic tyrosinemia using deuterated tyrosine loadsK F Faull, I Gan, B Halpern, et al.Lancet (London, England)|August 31, 1991
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cardsY Matsubara, K Narisawa, K Tada, et al.Pediatrics|June 1, 1979
IQ measurement in children with skeletal dysplasiaJ G Rogers, M A Perry, L A RosenbergAmerican Journal of Medical Genetics|March 25, 1998
Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patientsJ Christodoulou, D M Danks, B Sarkar, et al.Biological Trace Element Research|November 26, 2013
Failure to confirm abnormal copper utilization in crinkler (cr) miceJ R Mann, J Camakaris, J M Gillespie, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophyG M Small, M J Santos, T Imanaka, et al.Journal of Neurogenetics|April 1, 1985
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblastsK M Gibson, L Sweetman, I Jansen, et al.American Journal of Medical Genetics|March 17, 1999
An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvementS P Robertson, R Dickens, R Savarirayan, et al.Journal of Inherited Metabolic Disease|January 1, 1983
Deoxyribose-5-phosphate aldolase deficiency--a harmless inborn error of metabolismA Chappel, R D Scholem, G K Brown, et al.Pageof 19