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Journal of Medical Genetics|December 1, 1977
Hunter syndrome presenting as macrocephaly and hydrocephalusS Yatziv, C J EpsteinJournal of Medical Genetics|December 1, 1977
Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3)O Sanchéz, P Mamunes, J J YunisJournal of Medical Genetics|June 17, 2003
Telomeres: a diagnosis at the end of the chromosomesB B A De Vries, R Winter, A Schinzel, et al.Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.Journal of Medical Genetics|March 8, 2003
Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardationJ J Cox, S T Holden, S Dee, et al.Journal of Medical Genetics|March 8, 2003
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolismY J Crow, D N Black, M Ali, et al.Journal of Medical Genetics|March 8, 2003
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase geneC E Beesley, D Burke, M Jackson, et al.Journal of Medical Genetics|December 1, 1976
Age of onset in Huntington's disease: lack of parental age effectW BurkeJournal of Medical Genetics|February 1, 1977
A fluorescence polymorphism associated with Down's syndrome?J A Robinson, M NewtonPageof 649