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David N Cooper

Showing results (261-270 of 398) with videos related to

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European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Human Mutation|October 4, 2012
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov modelsHashem A Shihab, Julian Gough, David N Cooper, et al.
Frontiers in Genetics|August 23, 2021
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing AssaysJin-Huan Lin, Hao Wu, Wen-Bin Zou, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2026
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPIRoss Stewart, Florent Laval, Georges Coppin, et al.
European Journal of Human Genetics : EJHG|December 3, 2009
Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop projectJürgen W Goebel, Thomas Pickardt, Maren Bedau, et al.
Human Mutation|January 15, 2004
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumorsMeena Upadhyaya, Song Han, Claudia Consoli, et al.
American Journal of Human Genetics|November 14, 2007
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationKatharina Steinmann, David N Cooper, Lan Kluwe, et al.
Human Genomics|August 16, 2022
Expanding ACMG variant classification guidelines into a general frameworkEmmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Bioinformatics (Oxford, England)|September 9, 2017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variantsKymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|June 3, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitisEmmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, et al.
Pageof 40

Showing results (261-270 of 398) with videos related to

Sort By:
Pageof 40
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Human Mutation|October 4, 2012
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov modelsHashem A Shihab, Julian Gough, David N Cooper, et al.
Frontiers in Genetics|August 23, 2021
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing AssaysJin-Huan Lin, Hao Wu, Wen-Bin Zou, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2026
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPIRoss Stewart, Florent Laval, Georges Coppin, et al.
European Journal of Human Genetics : EJHG|December 3, 2009
Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop projectJürgen W Goebel, Thomas Pickardt, Maren Bedau, et al.
Human Mutation|January 15, 2004
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumorsMeena Upadhyaya, Song Han, Claudia Consoli, et al.
American Journal of Human Genetics|November 14, 2007
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombinationKatharina Steinmann, David N Cooper, Lan Kluwe, et al.
Human Genomics|August 16, 2022
Expanding ACMG variant classification guidelines into a general frameworkEmmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Bioinformatics (Oxford, England)|September 9, 2017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variantsKymberleigh A Pagel, Vikas Pejaver, Guan Ning Lin, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|June 3, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitisEmmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, et al.
Pageof 40