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David N Cooper

Showing results (341-350 of 398) with videos related to

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Human Mutation|January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutionsMatthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
Nature Genetics|January 3, 2024
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indicationsÁine Duffy, Ben Omega Petrazzini, David Stein, et al.
Frontiers in Genetics|May 27, 2021
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute PancreatitisQi Yang, Na Pu, Xiao-Yao Li, et al.
Human Mutation|September 19, 2008
A gene conversion hotspot in the human growth hormone (GH1) gene promoterAndreas Wolf, David S Millar, Amke Caliebe, et al.
Human Mutation|November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletionsAntje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
Plos Genetics|October 3, 2013
Guanine holes are prominent targets for mutation in cancer and inherited diseaseAlbino Bacolla, Nuri A Temiz, Ming Yi, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Human Mutation|May 13, 2017
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohortHao Wu, Dai-Zhan Zhou, Dorottya Berki, et al.
Genome Medicine|April 28, 2025
Regional and aging-specific cellular architecture of non-human primate brainsYun-Mei Wang, Wen-Chao Wang, Yongzhang Pan, et al.
Human Genetics|March 31, 2006
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and strokeMartin Horan, Vicky Newsway, Yasmin, et al.
Pageof 40

Showing results (341-350 of 398) with videos related to

Sort By:
Pageof 40
Human Mutation|January 7, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutionsMatthew Mort, Uday S Evani, Vidhya G Krishnan, et al.
Nature Genetics|January 3, 2024
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indicationsÁine Duffy, Ben Omega Petrazzini, David Stein, et al.
Frontiers in Genetics|May 27, 2021
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute PancreatitisQi Yang, Na Pu, Xiao-Yao Li, et al.
Human Mutation|September 19, 2008
A gene conversion hotspot in the human growth hormone (GH1) gene promoterAndreas Wolf, David S Millar, Amke Caliebe, et al.
Human Mutation|November 3, 2011
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletionsAntje M Zickler, Stephanie Hampp, Ludwine Messiaen, et al.
Plos Genetics|October 3, 2013
Guanine holes are prominent targets for mutation in cancer and inherited diseaseAlbino Bacolla, Nuri A Temiz, Ming Yi, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
Human Mutation|May 13, 2017
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohortHao Wu, Dai-Zhan Zhou, Dorottya Berki, et al.
Genome Medicine|April 28, 2025
Regional and aging-specific cellular architecture of non-human primate brainsYun-Mei Wang, Wen-Chao Wang, Yongzhang Pan, et al.
Human Genetics|March 31, 2006
Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and strokeMartin Horan, Vicky Newsway, Yasmin, et al.
Pageof 40