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Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Journal of Medical Genetics|October 4, 2002
"Molecular rulers" for calibrating phenotypic effects of telomere imbalanceC L Martin, D J Waggoner, A Wong, et al.
American Journal of Medical Genetics. Part A|March 6, 2020
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndromeAmanda Barone Pritchard, Stanley M Kanai, Bryan Krock, et al.
Molecular Autism|May 10, 2016
22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screeningTara L Wenger, Judith S Miller, Lauren M DePolo, et al.
Annals of Plastic Surgery|January 9, 2020
Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate RepairOksana A Jackson, Alison E Kaye, Alfred Lee, et al.
American Journal of Medical Genetics. Part A|November 1, 2018
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndromeKatheryn Grand, Lorraine E Levitt Katz, T Blaine Crowley, et al.
European Journal of Medical Genetics|December 23, 2008
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delayChad R Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, et al.
The Journal of Thoracic and Cardiovascular Surgery|October 19, 2010
Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?J William Gaynor, Marsha Gerdes, Alex S Nord, et al.
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