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David N Cooper

Showing results (51-60 of 398) with videos related to

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Nature Methods|April 1, 2014
MutationTaster2: mutation prediction for the deep-sequencing ageJana Marie Schwarz, David N Cooper, Markus Schuelke, et al.
Genomic Medicine|October 17, 2008
Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variantsNadia Chuzhanova, David N Cooper, Claude Férec, et al.
Human Mutation|October 16, 2015
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited DiseaseMihir Anant Kamat, Albino Bacolla, David N Cooper, et al.
Gut|June 12, 2017
<i>PRSS1</i> copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effectsEmmanuelle Masson, Jian-Min Chen, David N Cooper, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) geneMartin P Horan, Michael Osborn, David N Cooper, et al.
Human Mutation|May 6, 2008
A meta-analysis of nonsense mutations causing human genetic diseaseMatthew Mort, Dobril Ivanov, David N Cooper, et al.
Human Genomics|December 19, 2012
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1Laura Thomas, Victor-Felix Mautner, David N Cooper, et al.
Genome Medicine|July 29, 2022
X-CAP improves pathogenicity prediction of stopgain variantsRuchir Rastogi, Peter D Stenson, David N Cooper, et al.
Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsNadia Chuzhanova, Shaun S Abeysinghe, Michael Krawczak, et al.
Human Genetics|June 29, 2005
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic diseaseJian-Min Chen, Peter D Stenson, David N Cooper, et al.
Pageof 40

Showing results (51-60 of 398) with videos related to

Sort By:
Pageof 40
Nature Methods|April 1, 2014
MutationTaster2: mutation prediction for the deep-sequencing ageJana Marie Schwarz, David N Cooper, Markus Schuelke, et al.
Genomic Medicine|October 17, 2008
Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variantsNadia Chuzhanova, David N Cooper, Claude Férec, et al.
Human Mutation|October 16, 2015
A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited DiseaseMihir Anant Kamat, Albino Bacolla, David N Cooper, et al.
Gut|June 12, 2017
<i>PRSS1</i> copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effectsEmmanuelle Masson, Jian-Min Chen, David N Cooper, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) geneMartin P Horan, Michael Osborn, David N Cooper, et al.
Human Mutation|May 6, 2008
A meta-analysis of nonsense mutations causing human genetic diseaseMatthew Mort, Dobril Ivanov, David N Cooper, et al.
Human Genomics|December 19, 2012
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1Laura Thomas, Victor-Felix Mautner, David N Cooper, et al.
Genome Medicine|July 29, 2022
X-CAP improves pathogenicity prediction of stopgain variantsRuchir Rastogi, Peter D Stenson, David N Cooper, et al.
Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsNadia Chuzhanova, Shaun S Abeysinghe, Michael Krawczak, et al.
Human Genetics|June 29, 2005
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic diseaseJian-Min Chen, Peter D Stenson, David N Cooper, et al.
Pageof 40