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David N Cooper

Showing results (251-260 of 398) with videos related to

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Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Genome Biology and Evolution|February 5, 2024
Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and TranscriptomicsXiao-Lin Zhuang, Yong Shao, Chun-Yan Chen, et al.
Lipids in Health and Disease|August 11, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to dateGuofu Zhang, Yuepeng Hu, Qi Yang, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 21, 2004
Breakpoints of gross deletions coincide with non-B DNA conformationsAlbino Bacolla, Adam Jaworski, Jacquelynn E Larson, et al.
Human Mutation|May 28, 2010
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2Kathrin Bengesser, David N Cooper, Katharina Steinmann, et al.
Human Genomics|April 18, 2015
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumoursLaura E Thomas, Jincy Winston, Ellie Rad, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
American Journal of Human Genetics|March 25, 2026
Genome-wide detection of human 5' UTR variants that impact protein translationMatthieu Chaldebas, Khoren Ponsin, Jonathan Bohlen, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Pageof 40

Showing results (251-260 of 398) with videos related to

Sort By:
Pageof 40
Human Mutation|September 26, 2017
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 geneThéa Venet, Emmanuelle Masson, Cécile Talbotec, et al.
Genome Biology and Evolution|February 5, 2024
Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and TranscriptomicsXiao-Lin Zhuang, Yong Shao, Chun-Yan Chen, et al.
Lipids in Health and Disease|August 11, 2023
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to dateGuofu Zhang, Yuepeng Hu, Qi Yang, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 21, 2004
Breakpoints of gross deletions coincide with non-B DNA conformationsAlbino Bacolla, Adam Jaworski, Jacquelynn E Larson, et al.
Human Mutation|May 28, 2010
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2Kathrin Bengesser, David N Cooper, Katharina Steinmann, et al.
Human Genomics|April 18, 2015
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumoursLaura E Thomas, Jincy Winston, Ellie Rad, et al.
Human Mutation|March 7, 2014
Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksJishnu Das, Hao Ran Lee, Adithya Sagar, et al.
American Journal of Human Genetics|March 25, 2026
Genome-wide detection of human 5' UTR variants that impact protein translationMatthieu Chaldebas, Khoren Ponsin, Jonathan Bohlen, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Pageof 40