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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|May 6, 2005
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndromeP F Giampietro, D B Schowalter, S Merchant, et al.American Journal of Human Genetics|October 31, 2000
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphismsI M Buyse, P Fang, K T Hoon, et al.Prenatal Diagnosis|September 6, 2001
Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15D J Abrams, A R Aronoff, S Ann Berend, et al.Human Molecular Genetics|February 1, 1994
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17P F Chance, N Abbas, M W Lensch, et al.Human Mutation|January 1, 1996
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth diseaseB B Roa, L E Warner, C A Garcia, et al.American Journal of Human Genetics|January 1, 1995
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsiesD Lorenzetti, D Pareyson, A Sghirlanzoni, et al.American Journal of Human Genetics|May 1, 1997
Screening for 185delAG in the AshkenazimC S Richards, P A Ward, B B Roa, et al.Neurology|October 27, 2004
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10H A G Teive, B B Roa, S Raskin, et al.Human Genetics|May 1, 1996
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathyB B Roa, F Greenberg, P Gunaratne, et al.The New England Journal of Medicine|July 8, 1993
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 geneB B Roa, C A Garcia, U Suter, et al.Pageof 3