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American Journal of Medical Genetics. Part A|August 3, 2005
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangementsCheryl DeScipio, Maninder Kaur, Dinah Yaeger, et al.American Journal of Medical Genetics. Part A|October 7, 2005
XK-aprosencephaly and related entitiesG Renzetti, A Villani, C Bizzarri, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in CroatiaNina Canki-Klain, Astrid Milic, Biserka Kovac, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndromeMałgorzata J M Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Human disorganization complex, as a polytopic blastogenesis defect: a new caseWilmer Noé Delgado Luengo, María Luisa Hernández Rodríguez, Ivonne Valbuena Pirela, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadismL Zahed, G Oreibi, C Azar, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutationsAkihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Does bilirubin protect against hemochromatosis gene (HFE) related mortality?Behrooz Z Alizadeh, Omer T Njajou, Jeanine J Houwing-Duistermaat, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Pregnancy in a healthy woman with untreated citrullinemiaMurray A Potter, Susan Zeesman, Barbara Brennan, et al.American Journal of Medical Genetics. Part A|March 29, 2005
Somatic and gonadal mosaicism in Hutchinson-Gilford progeriaWim Wuyts, Martine Biervliet, Edwin Reyniers, et al.Pageof 928