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AJNR. American Journal of Neuroradiology|March 17, 2018
Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature ReviewE Verheij, L Elden, T B Crowley, et al.
American Journal of Medical Genetics. Part A|December 25, 2018
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndromeJason P Van Batavia, Terrence B Crowley, Evanette Burrows, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like featuresKosuke Izumi, Ryan Housam, Chirag Kapadia, et al.
American Journal of Human Genetics|January 1, 1993
Constitutional 1p36 deletion in a child with neuroblastomaJ A Biegel, P S White, H N Marshall, et al.
American Journal of Ophthalmology|November 1, 1996
Long-term follow-up of ocular findings in children with Stickler's syndromeM C Wilson, D M McDonald-McGinn, G E Quinn, et al.
American Journal of Medical Genetics|January 2, 1996
Frontonasal malformation and cloacal exstrophy: a previously unreported associationN H Robin, J A Neidich, L D Bason, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|December 25, 2002
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?Richard E Kirschner, David W Low, Peter Randall, et al.
American Journal of Medical Genetics. Part A|August 6, 2005
A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakageJennifer J D Morrissette, Livija Medne, Tyrone Bentley, et al.
American Journal of Medical Genetics|March 1, 1992
Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?N C Rose, S J Menacker, R E Schnur, et al.
American Journal of Medical Genetics. Part A|August 28, 2010
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung diseaseMatthew G Sampson, Curtis R Coughlin, Paige Kaplan, et al.
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