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David N Cooper

Showing results (361-370 of 398) with videos related to

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Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
American Journal of Medical Genetics. Part A|February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variantDaniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
The Journal of Clinical Endocrinology and Metabolism|March 6, 2004
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathwayMark D Lewis, Martin Horan, David S Millar, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Nature Ecology & Evolution|June 2, 2023
Eighty million years of rapid evolution of the primate Y chromosomeYang Zhou, Xiaoyu Zhan, Jiazheng Jin, et al.
Human Mutation|November 30, 2020
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journalsJan Higgins, Raymond Dalgleish, Johan T den Dunnen, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Human Mutation|December 19, 2021
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitisShin Hamada, Emmanuelle Masson, Jian-Min Chen, et al.
Human Mutation|October 31, 2006
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal, Jitka Sokolová, David N Cooper, et al.
Pageof 40

Showing results (361-370 of 398) with videos related to

Sort By:
Pageof 40
Human Mutation|May 28, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcriptsJin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, et al.
American Journal of Medical Genetics. Part A|February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variantDaniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.
The Journal of Clinical Endocrinology and Metabolism|March 6, 2004
A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathwayMark D Lewis, Martin Horan, David S Millar, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Journal of Medical Genetics|March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
Nature Ecology & Evolution|June 2, 2023
Eighty million years of rapid evolution of the primate Y chromosomeYang Zhou, Xiaoyu Zhan, Jiazheng Jin, et al.
Human Mutation|November 30, 2020
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journalsJan Higgins, Raymond Dalgleish, Johan T den Dunnen, et al.
American Journal of Human Genetics|June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutationsJennifer J Johnston, Katie L Lewis, David Ng, et al.
Human Mutation|December 19, 2021
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitisShin Hamada, Emmanuelle Masson, Jian-Min Chen, et al.
Human Mutation|October 31, 2006
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionPetr Vyletal, Jitka Sokolová, David N Cooper, et al.
Pageof 40