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American Journal of Medical Genetics. Part A|August 13, 2005
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, GermanyLuminita Göbbel, Rüdiger Schultka, Rudyard Klunker, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathyMustafa Tekin, Duygu Akcayoz, Armagan Incesulu
American Journal of Medical Genetics. Part A|September 9, 2005
Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndromeKarin S W H Hendriks, F J M Grosfeld, J P van Tintelen, et al.
American Journal of Medical Genetics. Part A|October 4, 2005
Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridizationOphir D Klein, Philip D Cotter, Ann M Schmidt, et al.
American Journal of Medical Genetics. Part A|February 17, 2007
Delineation of the cryptic 1qter deletion phenotypeJ Lawrence Merritt, Ying Zou, Syed M Jalal, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare systemE Henry, D Walker, S E Wiedmeier, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type BMarco Castori, Francesco Brancati, Rita Mingarelli, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) regionCarme Morales, Irene Madrigal, Teresa Esqué, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Clinical characterization of autosomal dominant and recessive variants of Robinow syndromeJuliana Forte Mazzeu, Eliete Pardono, Angela M Vianna-Morgante, et al.
American Journal of Medical Genetics. Part A|January 30, 2007
Two cases further delineating the Sakoda complexMelissa A Dempsey, Wilfredo Torres-Martinez, Laurence E Walsh
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