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 (141-150 of 398) with videos related to

Pageof 40
Sort By:
Current Protocols in Bioinformatics|September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolutionPeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Molecular Genetics|August 22, 2023
Genome-wide identification of dominant polyadenylation hexamers for use in variant classificationHenoke K Shiferaw, Celine S Hong, David N Cooper, et al.
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
BMC Medicine|August 30, 2022
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East AsiansXuehao Xiu, Haoyang Zhang, Angli Xue, et al.
BMC Medical Genetics|October 30, 2012
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter, Lan Kluwe, Josef Högel, et al.
Blood Cells, Molecules & Diseases|May 13, 2006
A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regionsFei Xie, Xuefeng Wang, David N Cooper, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Pageof 40

Showing results (141-150 of 398) with videos related to

Sort By:
Pageof 40
Current Protocols in Bioinformatics|September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolutionPeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Molecular Genetics|August 22, 2023
Genome-wide identification of dominant polyadenylation hexamers for use in variant classificationHenoke K Shiferaw, Celine S Hong, David N Cooper, et al.
Human Mutation|May 28, 2011
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutationJulia Vogt, Jürgen Kohlhase, Susanne Morlot, et al.
Human Mutation|November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutationsGuojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG|October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variantsLuisa Azevedo, Matthew Mort, Antonio C Costa, et al.
BMC Medicine|August 30, 2022
Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East AsiansXuehao Xiu, Haoyang Zhang, Angli Xue, et al.
BMC Medical Genetics|October 30, 2012
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsTanja Mußotter, Lan Kluwe, Josef Högel, et al.
Blood Cells, Molecules & Diseases|May 13, 2006
A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regionsFei Xie, Xuefeng Wang, David N Cooper, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Pageof 40