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American Journal of Medical Genetics. Part A|July 5, 2016
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndromeCheryl Cytrynbaum, Karen Chong, Vickie Hannig, et al.
Controlled Clinical Trials|May 22, 2003
Surgical quality assurance in the Ischemic Optic Neuropathy Decompression Trial (IONDT)Steven E Feldon, Roberta W Scherer, Frank J Hooper, et al.
Nature Genetics|October 31, 2001
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndromeL R Osborne, M Li, B Pober, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2Susan Zeesman, Małgorzata J M Nowaczyk, Ikuko Teshima, et al.
American Journal of Human Genetics|November 14, 2007
Contribution of SHANK3 mutations to autism spectrum disorderRainald Moessner, Christian R Marshall, James S Sutcliffe, et al.
Journal of Medical Genetics|June 8, 2023
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samplesMarc Woodbury-Smith, Lia D'Abate, Dimitri J Stavropoulos, et al.
Neurology|February 4, 2011
Mitochondrial DNA haplogroups and mutations in children with acquired central demyelinationS Venkateswaran, K Zheng, M Sacchetti, et al.
Plos One|April 22, 2017
Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's diseaseNancy J Butcher, Daniele Merico, Mehdi Zarrei, et al.
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