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American Journal of Medical Genetics. Part A|November 14, 2008
Skeletal dysplasia in ancient EgyptChahira KozmaAmerican Journal of Medical Genetics. Part A|November 14, 2008
A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stonesCandy A Heyen, Paula R Delk, Marilyn J Bull, et al.American Journal of Medical Genetics. Part A|November 18, 2008
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophySérgio B Sousa, Isabelle Russell-Eggitt, Christine Hall, et al.American Journal of Medical Genetics. Part A|November 18, 2008
Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?André Mégarbané, Leila Samaras, Rima Chédid, et al.American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.American Journal of Medical Genetics. Part A|February 13, 2009
Family letters are an effective way to inform relatives about inherited cardiac diseaseWilma P van der Roest, José M Pennings, Marian Bakker, et al.American Journal of Medical Genetics. Part A|February 13, 2009
A premature infant with Costello syndrome due to a rare G13C HRAS mutationMaria Piccione, Ettore Piro, Maria Grazia Pomponi, et al.American Journal of Medical Genetics. Part A|February 12, 2009
Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcificationsNomazulu Dlamini, Miranda Splitt, Anne Durkan, et al.American Journal of Medical Genetics. Part A|February 12, 2009
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndromeL E Becerra-Solano, J Butler, G Castañeda-Cisneros, et al.American Journal of Medical Genetics. Part A|October 2, 2007
Pai syndrome: report of seven South American patientsMaria Leine Guion-Almeida, Cecília Mellado, Constanza Beltrán, et al.Pageof 929