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European Journal of Human Genetics : EJHG|July 26, 2012
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2John C K Barber, Victoria Hall, Viv K Maloney, et al.
Pharmacogenetics and Genomics|December 14, 2005
A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveysSantiago Rodríguez, Shuwen Huang, Xiao-he Chen, et al.
American Journal of Medical Genetics. Part A|December 2, 2017
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalitiesMark S Bateman, Morag N Collinson, David J Bunyan, et al.
European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
The Journal of Clinical Endocrinology and Metabolism|February 21, 2008
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentDaniel Kelberman, Sandra C P de Castro, Shuwen Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilitiesErin B Kaminsky, Vineith Kaul, Justin Paschall, et al.
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