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David N Cooper

Showing results (351-360 of 398) with videos related to

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Public Health Genomics|September 28, 2016
Test Pricing and Reimbursement in Genomic Medicine: Towards a General StrategyAthanassios Vozikis, David N Cooper, Christina Mitropoulou, et al.
European Journal of Human Genetics : EJHG|July 15, 2005
Early onset seizures and Rett-like features associated with mutations in CDKL5Julie C Evans, Hayley L Archer, James P Colley, et al.
Molecular Biology and Evolution|January 10, 2023
Large-Scale Chromosomal Changes Lead to Genome-Level Expression Alterations, Environmental Adaptation, and Speciation in the Gayal (Bos frontalis)Yan Li, Sheng Wang, Zhe Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sitesPeng Zhang, Matthieu Chaldebas, Masato Ogishi, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|August 9, 2024
SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER StressMin-Jun Wang, Yuan-Chen Wang, Emmanuelle Masson, et al.
Human Mutation|March 26, 2003
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureDavid S Millar, Mark D Lewis, Martin Horan, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
Molecular Biology and Evolution|July 26, 2023
Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain EvolutionXiao-Lin Zhuang, Jin-Jin Zhang, Yong Shao, et al.
Pageof 40

Showing results (351-360 of 398) with videos related to

Sort By:
Pageof 40
Public Health Genomics|September 28, 2016
Test Pricing and Reimbursement in Genomic Medicine: Towards a General StrategyAthanassios Vozikis, David N Cooper, Christina Mitropoulou, et al.
European Journal of Human Genetics : EJHG|July 15, 2005
Early onset seizures and Rett-like features associated with mutations in CDKL5Julie C Evans, Hayley L Archer, James P Colley, et al.
Molecular Biology and Evolution|January 10, 2023
Large-Scale Chromosomal Changes Lead to Genome-Level Expression Alterations, Environmental Adaptation, and Speciation in the Gayal (Bos frontalis)Yan Li, Sheng Wang, Zhe Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2023
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sitesPeng Zhang, Matthieu Chaldebas, Masato Ogishi, et al.
Nature Communications|September 14, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populationsRobert Fragoza, Jishnu Das, Shayne D Wierbowski, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|August 9, 2024
SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER StressMin-Jun Wang, Yuan-Chen Wang, Emmanuelle Masson, et al.
Human Mutation|March 26, 2003
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureDavid S Millar, Mark D Lewis, Martin Horan, et al.
Human Mutation|April 17, 2009
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti, Nadia A Chuzhanova, Andrea Dardis, et al.
Molecular Biology and Evolution|July 26, 2023
Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain EvolutionXiao-Lin Zhuang, Jin-Jin Zhang, Yong Shao, et al.
Pageof 40