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David N Cooper

Showing results (321-330 of 398) with videos related to

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American Journal of Human Genetics|November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variantsCigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Human Mutation|May 31, 2017
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotypeArnaud Boulling, Emmanuelle Masson, Wen-Bin Zou, et al.
Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.
Omics : a Journal of Integrative Biology|November 16, 2017
Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" StrategyKonstantinos Mitropoulos, David N Cooper, Christina Mitropoulou, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 26, 2022
Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorisesMing-Li Li, Sheng Wang, Penghui Xu, et al.
Genome Biology|November 30, 2019
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variantsHai Lin, Katherine A Hargreaves, Rudong Li, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Personalized Medicine|May 17, 2018
Bridging genomics research between developed and developing countries: the Genomic Medicine AllianceDavid N Cooper, Angela Brand, Vita Dolzan, et al.
Plos One|April 19, 2014
Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver diseaseShamsul Mohd Zain, Rosmawati Mohamed, David N Cooper, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Pageof 40

Showing results (321-330 of 398) with videos related to

Sort By:
Pageof 40
American Journal of Human Genetics|November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variantsCigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Human Mutation|May 31, 2017
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotypeArnaud Boulling, Emmanuelle Masson, Wen-Bin Zou, et al.
Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.
Omics : a Journal of Integrative Biology|November 16, 2017
Genomic Medicine Without Borders: Which Strategies Should Developing Countries Employ to Invest in Precision Medicine? A New "Fast-Second Winner" StrategyKonstantinos Mitropoulos, David N Cooper, Christina Mitropoulou, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 26, 2022
Functional genomics analysis reveals the evolutionary adaptation and demographic history of pygmy lorisesMing-Li Li, Sheng Wang, Penghui Xu, et al.
Genome Biology|November 30, 2019
RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variantsHai Lin, Katherine A Hargreaves, Rudong Li, et al.
Human Mutation|February 17, 2015
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularityDominik G Grimm, Chloé-Agathe Azencott, Fabian Aicheler, et al.
Personalized Medicine|May 17, 2018
Bridging genomics research between developed and developing countries: the Genomic Medicine AllianceDavid N Cooper, Angela Brand, Vita Dolzan, et al.
Plos One|April 19, 2014
Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver diseaseShamsul Mohd Zain, Rosmawati Mohamed, David N Cooper, et al.
Plos Genetics|December 16, 2014
A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutationsXiaomu Wei, Jishnu Das, Robert Fragoza, et al.
Pageof 40