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American Journal of Medical Genetics. Part A|August 6, 2003
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21Ralph J DeBerardinis, Danielle Conforto, Karen Russell, et al.American Journal of Medical Genetics. Part A|August 6, 2003
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubismBryan Lo, M Faiyaz-Ul-Haque, S Kennedy, et al.American Journal of Medical Genetics. Part A|August 6, 2003
Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18Carol E Anderson, Hope H Punnett, Vicki Huff, et al.American Journal of Medical Genetics. Part A|August 12, 2003
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?Jasvinder A Singh, Calvin B Williams, William H McAlisterAmerican Journal of Medical Genetics. Part A|August 12, 2003
Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Carsten Bergmann, Klaus Zerres, Thomas Peschgens, et al.American Journal of Medical Genetics. Part A|August 12, 2003
Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literatureHolger Tönnies, Luitgard M Neumann, Berthild Grüneberg, et al.American Journal of Medical Genetics. Part A|August 12, 2003
Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspringRobert-Jan H Galjaard, Herma C van der Linde, Bert H J Eussen, et al.American Journal of Medical Genetics. Part A|August 12, 2003
Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomesNatalia V Kovaleva, Lisa G ShafferAmerican Journal of Medical Genetics. Part A|December 18, 2003
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literatureHailah Al-Hussain, Steffen M Zeisberger, Peter R Huber, et al.American Journal of Medical Genetics. Part A|December 18, 2003
Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestationsLaurence Faivre, Valérie Cormier-Daire, Alison M Eliott, et al.Pageof 928