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American Journal of Medical Genetics. Part A|October 20, 2009
Calvarial doughnut lesions and osteoporosis: a new three-generation family and reviewE Jaakkola, C M Laine, M K Mäyränpää, et al.American Journal of Medical Genetics. Part A|October 21, 2009
Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the futureRobert P EricksonAmerican Journal of Medical Genetics. Part A|October 21, 2009
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusChristèle du Souich, Athena Chou, Jingyi Yin, et al.American Journal of Medical Genetics. Part A|October 21, 2009
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopyAnne-Claire Bursztejn, Myriam Bronner, Sylviane Peudenier, et al.American Journal of Medical Genetics. Part A|February 9, 2010
FOXE3 plays a significant role in autosomal recessive microphthalmiaLinda M Reis, Rebecca C Tyler, Adele Schneider, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Pulmonary function and emphysema in Williams-Beuren syndromeEmily S Wan, Barbara R Pober, George R Washko, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher diseaseElka Miller, Elysa Widjaja, Daniel Nilsson, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literatureA Erez, J Li, M T Geraghty, et al.American Journal of Medical Genetics. Part A|February 27, 2010
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiencyCarolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, et al.Pageof 929