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American Journal of Medical Genetics|February 22, 2002
Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) populationIêda M Orioli, Alexandre R Vieira, Eduardo E Castilla, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 12, 2018
Holoprosencephaly: A clinical genomics perspectiveBenjamin D Solomon, Kyle Retterer, Jane JuusolaMolecular Genetics & Genomic Medicine|July 19, 2017
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of diseaseCarlos R Ferreira, Debra S Regier, Donald W Hadley, et al.American Journal of Human Genetics|January 19, 2002
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricleElizabeth Goldmuntz, Richard Bamford, Jayaprakash D Karkera, et al.Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.Psychiatry Research|November 11, 2009
ADHD latent class clusters: DSM-IV subtypes and comorbidityJosephine Elia, Mauricio Arcos-Burgos, Kelly L Bolton, et al.Attention Deficit and Hyperactivity Disorders|August 12, 2016
Retrospective assessment of childhood ADHD symptoms for diagnosis in adults: validity of a short 8-item version of the Wender-Utah Rating ScaleDebjani Das, Jorge I Vélez, Maria T Acosta, et al.Human Mutation|September 9, 2020
Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypesMomoko Nagai-Tanima, Sungkook Hong, Ping Hu, et al.American Journal of Medical Genetics. Part A|June 14, 2023
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1Ekanem N Ekure, Kareem O Musa, Ngozi Ulonnam, et al.American Journal of Medical Genetics. Part A|August 8, 2015
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literatureYonit A Addissie, Udhaya Kotecha, Rachel A Hart, et al.Pageof 29