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International Journal of Pediatric Otorhinolaryngology|December 18, 2018
Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patternsOksana A Jackson, Kaitlyn Paine, Leanne Magee, et al.
American Journal of Medical Genetics. Part A|August 7, 2007
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndromeUsha T Sundaram, Donna M McDonald-McGinn, Dale Huff, et al.
Journal of Medical Genetics|October 1, 1993
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defectsE Goldmuntz, D Driscoll, M L Budarf, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopeniasMichele P Lambert, Abinaya Arulselvan, Amanda Schott, et al.
Journal of Autism and Developmental Disorders|September 1, 2005
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndromeSarah E Fine, Alison Weissman, Marsha Gerdes, et al.
Plastic and Reconstructive Surgery|December 18, 2001
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary reportL B Cassileth, S P Bartlett, P M Glat, et al.
American Journal of Medical Genetics. Part A|July 23, 2015
Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepanciesMinjie Luo, Surabhi Mulchandani, Holly A Dubbs, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unitRebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, et al.
Journal of Clinical Immunology|May 26, 2017
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined ImmunodeficiencyJessica C Barry, Terrence Blaine Crowley, Soma Jyonouchi, et al.
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