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David N Cooper

Showing results (201-210 of 398) with videos related to

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Genome Research|January 1, 2009
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsJeremy R Sanford, Xin Wang, Matthew Mort, et al.
Gut|January 1, 2016
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitisWen-Bin Zou, Arnaud Boulling, Emmanuelle Masson, et al.
Human Genomics|May 6, 2017
In silico prioritization and further functional characterization of SPINK1 intronic variantsWen-Bin Zou, Hao Wu, Arnaud Boulling, et al.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
Gut|March 14, 2019
Most unambiguous loss-of-function <i>CPA1</i> mutations are unlikely to predispose to chronic pancreatitisJin-Huan Lin, Arnaud Boulling, Emmanuelle Masson, et al.
European Journal of Human Genetics : EJHG|January 24, 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, David N Cooper, et al.
Frontiers in Genetics|October 2, 2019
Compound Heterozygosity for Novel Truncating Variants in the <i>LMOD3</i> Gene as the Cause of Polyhydramnios in Two Successive FetusesYe Wang, Caixia Zhu, Liu Du, et al.
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Mutation|September 9, 2016
ExonImpact: Prioritizing Pathogenic Alternative Splicing EventsMeng Li, Weixing Feng, Xinjun Zhang, et al.
Human Genetics|June 14, 2025
Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genesShuangyu Yang, Dan He, Ling Li, et al.
Pageof 40

Showing results (201-210 of 398) with videos related to

Sort By:
Pageof 40
Genome Research|January 1, 2009
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsJeremy R Sanford, Xin Wang, Matthew Mort, et al.
Gut|January 1, 2016
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitisWen-Bin Zou, Arnaud Boulling, Emmanuelle Masson, et al.
Human Genomics|May 6, 2017
In silico prioritization and further functional characterization of SPINK1 intronic variantsWen-Bin Zou, Hao Wu, Arnaud Boulling, et al.
Nature Genetics|February 27, 2019
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicingKarthik A Jagadeesh, Joseph M Paggi, James S Ye, et al.
Gut|March 14, 2019
Most unambiguous loss-of-function <i>CPA1</i> mutations are unlikely to predispose to chronic pancreatitisJin-Huan Lin, Arnaud Boulling, Emmanuelle Masson, et al.
European Journal of Human Genetics : EJHG|January 24, 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, David N Cooper, et al.
Frontiers in Genetics|October 2, 2019
Compound Heterozygosity for Novel Truncating Variants in the <i>LMOD3</i> Gene as the Cause of Polyhydramnios in Two Successive FetusesYe Wang, Caixia Zhu, Liu Du, et al.
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Mutation|September 9, 2016
ExonImpact: Prioritizing Pathogenic Alternative Splicing EventsMeng Li, Weixing Feng, Xinjun Zhang, et al.
Human Genetics|June 14, 2025
Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genesShuangyu Yang, Dan He, Ling Li, et al.
Pageof 40