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American Journal of Medical Genetics. Part A|April 6, 2011
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?Vered Shkalim, Liat Ben-Sira, Dov Inbar, et al.American Journal of Medical Genetics. Part A|April 2, 2011
Wilms tumor in a patient with 22q11.2 microdeletionPaul T Finch, Eniko K Pivnick, Wayne Furman, et al.American Journal of Medical Genetics. Part A|April 13, 2011
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmosJuan Carlos Zenteno, Beatriz Buentello-Volante, Raul Ayala-Ramirez, et al.American Journal of Medical Genetics. Part A|April 13, 2011
In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in malesElena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, et al.American Journal of Medical Genetics. Part A|April 13, 2011
Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicismDeborah BrunsAmerican Journal of Medical Genetics. Part A|June 1, 2011
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasiaLuciana Nogueira Delfino, Giuseppe Fariello, Carlo Cosimo Quattrocchi, et al.American Journal of Medical Genetics. Part A|June 1, 2011
Prevalence of sleep problems in Smith-Lemli-Opitz syndromeMarcin Zarowski, Martina Vendrame, Mira Irons, et al.American Journal of Medical Genetics. Part A|June 1, 2011
Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 geneEleanor S Click, Barbara Cox, Susan B Olson, et al.American Journal of Medical Genetics. Part A|June 1, 2011
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndromeOscar F Chacon-Camacho, Johanna Vázquez, Juan C ZentenoAmerican Journal of Medical Genetics. Part A|May 11, 2011
Anatomic and etiological classification of congenital limb deficienciesNina B Gold, Marie-Noel Westgate, Lewis B HolmesPageof 928