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American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
Neuron|January 14, 2023
Machine learning dissection of human accelerated regions in primate neurodevelopmentSean Whalen, Fumitaka Inoue, Hane Ryu, et al.
American Journal of Human Genetics|August 6, 2013
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissectionsDong-chuan Guo, Ellen Regalado, Darren E Casteel, et al.
Nature|April 13, 2012
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsBrian J O'Roak, Laura Vives, Santhosh Girirajan, et al.
Influenza and Other Respiratory Viruses|June 22, 2023
Respiratory syncytial virus and other respiratory virus infections in residents of homeless shelters - King County, Washington, 2019-2021Denise J McCulloch, Julia H Rogers, Yongzhe Wang, et al.
Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.
Human Mutation|May 21, 2019
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assayDustin Shigaki, Orit Adato, Aashish N Adhikari, et al.
Human Genetics|March 30, 2016
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissueAnas M Alazami, Sarah M Al-Qattan, Eissa Faqeih, et al.
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