Showing results (2431-2440 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|August 9, 2005
Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, et al.Human Mutation|August 10, 2005
Mutation spectrum of the APC gene in 83 Korean FAP familiesDuck-Woo Kim, Il-Jin Kim, Hio Chung Kang, et al.Human Mutation|August 10, 2005
ATP1A2 mutations in 11 families with familial hemiplegic migraineFlorence Riant, Maurizio De Fusco, Paolo Aridon, et al.Human Mutation|August 10, 2005
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domainA Marsh, C Wicking, B Wainwright, et al.Human Mutation|August 10, 2005
De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genesErik Teugels, Sylvia De Brakeleer, Guido Goelen, et al.Human Mutation|August 10, 2005
Novel PEX1 coding mutations and 5' UTR regulatory polymorphismsMegan A Maxwell, Pamela B Leane, Barbara C Paton, et al.Human Mutation|January 1, 1994
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutationsL A Clarke, P V Nelson, C L Warrington, et al.Human Mutation|January 1, 1994
(ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutationsR J Olds, D A Lane, V Chowdhury, et al.Human Mutation|January 1, 1993
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenesR Vervoort, W Lissens, I LiebaersHuman Mutation|January 1, 1993
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndromeS Marcus, E Christensen, G MalmPageof 583