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American Journal of Medical Genetics|July 15, 1994
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22A J Donnelly, K H Choo, H M Kozman, 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.
American 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 Neurogenetics|April 1, 1985
Properties of succinic semialdehyde dehydrogenase in cultured human lymphoblastsK M Gibson, L Sweetman, I Jansen, et al.
Archives of Disease in Childhood|March 23, 2004
Qualitative analysis of parents' experience with early detection of hearing lossS A Russ, A A Kuo, Z Poulakis, et al.
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