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American Journal of Medical Genetics. Part A|May 13, 2008
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndromeGareth Baynam, Jack Goldblatt, Ian WalpoleAmerican Journal of Medical Genetics. Part A|December 4, 2004
Carbimazole embryopathy: an emerging phenotypeNicola Foulds, Ian Walpole, Frances Elmslie, et al.American Journal of Medical Genetics. Part A|May 20, 2011
Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 geneJack Goldblatt, Jill Hyatt, Caitlin Edwards, et al.American Journal of Medical Genetics. Part A|July 2, 2003
Population screening for cystic fibrosis: knowledge and emotional consequences 18 months laterClaire Gordon, Ian Walpole, Stephen R Zubrick, et al.American Journal of Medical Genetics. Part A|December 13, 2007
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variabilityMarjolijn C J Jongmans, Lies H Hoefsloot, Kim P van der Donk, et al.European Journal of Human Genetics : EJHG|August 13, 2002
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genesAnnick Toutain, Benoît Dessay, Nathalie Ronce, et al.Pageof 1