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Acta Anthropogenetica|January 1, 1985
Postnatal and prenatal diagnosis of Maroteaux-Lamy syndromeA Rogoyski, B Czartoryska, W J Kleijer, et al.Neurologia I Neurochirurgia Polska|July 1, 1993
[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]J G Zimowski, M Bisko, E Fidziańska, et al.Human Mutation|January 1, 1997
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)S Bunge, H Ince, C Steglich, et al.Genomics|July 15, 1997
Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndromeS L Karsten, K Lagerstedt, B M Carlberg, et al.Prenatal Diagnosis|January 1, 1994
Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assayW He, Voznyi YaV, J G Huijmans, et al.Journal of Medical Genetics|December 1, 1986
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII geneJ R Yates, N A Affara, D M Jamieson, et al.Neurologia I Neurochirurgia Polska|May 4, 2002
[Clinical picture of spinocerebellar ataxia type I (SCA1)]D Milewska, E Piłkowska, T Jakubowska, et al.Journal of Medical Genetics|February 1, 1993
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28J R Yates, J P Warner, J A Smith, et al.Clinical Genetics|November 1, 1996
Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.Pageof 6