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David N Cooper

Showing results (301-310 of 398) with videos related to

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Human Mutation|July 28, 2012
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorderJulia Vogt, Tanja Mussotter, Kathrin Bengesser, et al.
Human Mutation|August 21, 2010
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletionsAngelika C Roehl, Julia Vogt, Tanja Mussotter, et al.
Genome Biology|July 9, 2004
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesHui Huang, Eitan E Winter, Huajun Wang, et al.
Gastro Hep Advances|August 12, 2024
High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic PancreatitisYuan-Chen Wang, Wen-Bin Zou, Da-Hai Tang, et al.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Human Genomics|October 9, 2015
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHDMary B Mayes, Taniesha Morgan, Jincy Winston, et al.
Molecular and Cellular Endocrinology|October 28, 2008
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African populationDavid S Millar, Mark D Lewis, Martin Horan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literatureJohannes Birgmeier, Cole A Deisseroth, Laura E Hayward, et al.
Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.
Pageof 40

Showing results (301-310 of 398) with videos related to

Sort By:
Pageof 40
Human Mutation|July 28, 2012
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorderJulia Vogt, Tanja Mussotter, Kathrin Bengesser, et al.
Human Mutation|August 21, 2010
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletionsAngelika C Roehl, Julia Vogt, Tanja Mussotter, et al.
Genome Biology|July 9, 2004
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomesHui Huang, Eitan E Winter, Huajun Wang, et al.
Gastro Hep Advances|August 12, 2024
High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic PancreatitisYuan-Chen Wang, Wen-Bin Zou, Da-Hai Tang, et al.
Ebiomedicine|August 21, 2024
Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian frameworkDan He, Ling Li, Huasong Zhang, et al.
American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Human Genomics|October 9, 2015
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHDMary B Mayes, Taniesha Morgan, Jincy Winston, et al.
Molecular and Cellular Endocrinology|October 28, 2008
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African populationDavid S Millar, Mark D Lewis, Martin Horan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literatureJohannes Birgmeier, Cole A Deisseroth, Laura E Hayward, et al.
Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.
Pageof 40