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American Journal of Medical Genetics. Part A|February 25, 2003
Waardenburg syndrome: clinical differentiation between types I and IIEliete Pardono, Yolande van Bever, Jenneke van den Ende, et al.American Journal of Medical Genetics. Part A|February 25, 2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical regionDenise Horn, Heidemarie Neitzel, Holger Tönnies, et al.American Journal of Medical Genetics. Part A|February 25, 2003
Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22Gillian Turner, Agi Gedeon, Bronwyn Kerr, et al.American Journal of Medical Genetics. Part A|February 25, 2003
Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: independent mechanism of telomere restitution on the two chromatidsKavita S Reddy, Xiaojing YangAmerican Journal of Medical Genetics. Part A|January 28, 2003
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failureR D L Hundscheid, A P T Smits, C M G Thomas, et al.American Journal of Medical Genetics. Part A|January 28, 2003
Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)Jeanne Amiel, Anna Pelet, Ha Trang, et al.American Journal of Medical Genetics. Part A|January 28, 2003
Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1Julie E Hoover-Fong, J Cai, C B Cargile, et al.American Journal of Medical Genetics. Part A|January 28, 2003
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked traitMarcella Zollino, Cesare Colosimo, Orsetta Zuffardi, et al.American Journal of Medical Genetics. Part A|December 21, 2002
Genetic testing for hereditary colorectal cancer in children: long-term psychological effectsAnn-Marie Codori, Kristin L Zawacki, Gloria M Petersen, et al.American Journal of Medical Genetics. Part A|December 21, 2002
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defectsMurat Derbent, Zerrin Yilmaz, Volkan Baltaci, et al.Pageof 928