Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David N Cooper

Showing results (271-280 of 398) with videos related to

Pageof 40
Sort By:
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Proteins|October 5, 2017
Biological and functional relevance of CASP predictionsTianyun Liu, Shirbi Ish-Shalom, Wen Torng, et al.
Cancers|February 15, 2019
Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer GenomesIgor B Rogozin, Abiel Roche-Lima, Artem G Lada, et al.
Molecular Biology and Evolution|January 6, 2026
A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammalsJinjin Zhang, Xiuping Zhang, Ningyawen Liu, et al.
Human Mutation|September 11, 2014
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletionsHildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Cellular and Molecular Gastroenterology and Hepatology|April 10, 2022
The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in MiceXiao-Tong Mao, Wen-Bin Zou, Yu Cao, et al.
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 40

Showing results (271-280 of 398) with videos related to

Sort By:
Pageof 40
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Proteins|October 5, 2017
Biological and functional relevance of CASP predictionsTianyun Liu, Shirbi Ish-Shalom, Wen Torng, et al.
Cancers|February 15, 2019
Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer GenomesIgor B Rogozin, Abiel Roche-Lima, Artem G Lada, et al.
Molecular Biology and Evolution|January 6, 2026
A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammalsJinjin Zhang, Xiuping Zhang, Ningyawen Liu, et al.
Human Mutation|September 11, 2014
Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletionsHildegard Kehrer-Sawatzki, Kathrin Bengesser, Tom Callens, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Cellular and Molecular Gastroenterology and Hepatology|April 10, 2022
The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in MiceXiao-Tong Mao, Wen-Bin Zou, Yu Cao, et al.
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 40