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American Journal of Medical Genetics. Part A|September 24, 2004
Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutationDébora Romeo Bertola, Alexandre C Pereira, Paulo S L de Oliveira, et al.American Journal of Medical Genetics. Part A|September 24, 2004
Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)Hiroyuki Torisu, Toshiyuki Yamamoto, Takehisa Fujiwaki, et al.American Journal of Medical Genetics. Part A|September 24, 2004
Clinical variability in KBG syndrome: report of three unrelated familiesGustavo Henrique Boff Maegawa, Júlio Cesar Loguercio Leite, Têmis Maria Félix, et al.American Journal of Medical Genetics. Part A|September 24, 2004
Costello syndrome with pancreatic islet cell hyperplasiaPatricia I Dickson, Norman Y Briones, Barry G Baylen, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasiaDoris Taha, Cornelius F Boerkoel, John Williamson Balfe, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patientsKiarash Khosrotehrani, Sylvie Bastuji-Garin, Vincent M Riccardi, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)Eleni Panagiotakaki, Maria Tzetis, Nina Manolaki, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylationL C Walker, M A Overstreet, M C Willing, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) geneMartin P Horan, Michael Osborn, David N Cooper, et al.American Journal of Medical Genetics. Part A|November 4, 2004
Developmental outcome in Kabuki syndromeKeith K Vaux, Kenneth L Jones, Marilyn C Jones, et al.Pageof 929