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American Journal of Medical Genetics. Part A|November 27, 2014
Phenotypes of AKT3 deletion: a case report and literature reviewDayu Gai, Eric Haan, Matthew Scholar, et al.American Journal of Medical Genetics. Part A|November 27, 2014
Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutationAndrea Guerin, Joyce So, Kamiar Mireskandari, et al.American Journal of Medical Genetics. Part A|October 7, 2015
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?Valeria Cavalleri, Laura R Bettini, Chiara Barboni, et al.American Journal of Medical Genetics. Part A|November 7, 2015
Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomaliesCaroline Bosson, Françoise Devillard, Véronique Satre, et al.American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations present with a spectrum of clinical severitySiddharth Srivastava, Heather E Olson, Julie S Cohen, et al.American Journal of Medical Genetics. Part A|June 18, 2016
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variantPatra Yeetong, Thierry Vilboux, Carla Ciccone, et al.American Journal of Medical Genetics. Part A|June 21, 2016
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2AEmilia Stellacci, Roberta Onesimo, Alessandro Bruselles, et al.American Journal of Medical Genetics. Part A|June 12, 2016
Temporal changes in chromosome abnormalities in human spontaneous abortions: Results of 40 years of analysisKathy Hardy, Philip J Hardy, Patricia A Jacobs, et al.American Journal of Medical Genetics. Part A|May 24, 2016
Higher plasma orexin A levels in children with Prader-Willi syndrome compared with healthy unrelated sibling controlsAnn M Manzardo, Lisa Johnson, Jennifer L Miller, et al.American Journal of Medical Genetics. Part A|May 6, 2016
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3)Paul Dimitri, Elisa De Franco, Abdelhadi M Habeb, et al.Pageof 927