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American Journal of Medical Genetics. Part A|February 10, 2017
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutationNatario L Couser, Chetna K Pande, Christie M Turcott, et al.Birth Defects Research|December 6, 2018
Special education use in elementary school by children with nonsyndromic orofacial cleftsStephanie E Watkins, Alexander C Allori, Robert E Meyer, et al.Journal of Child Neurology|May 19, 2012
A novel STXBP1 mutation causes focal seizures with neonatal onsetMatteo Vatta, Michael B Tennison, Arthur S Aylsworth, et al.American Journal of Medical Genetics. Part A|September 22, 2018
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1Natario L Couser, Debra Keelean-Fuller, Marsha L Davenport, et al.American Journal of Human Genetics|July 23, 2019
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic SyndromeLinda M Reis, Elena A Sorokina, Samuel Thompson, et al.American Journal of Medical Genetics. Part A|July 18, 2019
Risk factors for primary congenital glaucoma in the National Birth Defects Prevention StudyNina E Forestieri, Tania A Desrosiers, Sharon F Freedman, et al.Human Genetics|January 13, 2010
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPEJill A Rosenfeld, Blake C Ballif, Donna M Martin, et al.American Journal of Medical Genetics. Part A|June 17, 2008
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermiaDemetra S Stamm, Arthur S Aylsworth, Jeffrey M Stajich, et al.American Journal of Medical Genetics. Part A|May 17, 2007
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethalityChristian Kranz, Alice A Basinger, Müge Güçsavaş-Calikoğlu, et al.Plos One|August 12, 2009
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndromeJill A Rosenfeld, Blake C Ballif, Ann Lucas, et al.Pageof 6