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David N Cooper

Showing results (101-110 of 398) with videos related to

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Nucleic Acids Research|May 21, 2019
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variantsJana Marie Schwarz, Daniela Hombach, Sebastian Köhler, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A legal framework for biobanking: the German experienceJürgen Simon, Rainer Paslack, Jürgen Robienski, et al.
Current Opinion in Genetics & Development|May 1, 2007
Gain-of-glycosylation mutationsGuillaume Vogt, Benoît Vogt, Nadia Chuzhanova, et al.
Nucleic Acids Research|April 22, 2015
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomesAlbino Bacolla, Xiao Zhu, Hanning Chen, et al.
Human Mutation|December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexityNadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, et al.
Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.
Annals of Neurology|January 26, 2012
Exome sequencing: dual role as a discovery and diagnostic toolChee-Seng Ku, David N Cooper, Constantin Polychronakos, et al.
Human Genetics|May 4, 2011
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disordersKim Fechtel, Marika L Osterbur, Hildegard Kehrer-Sawatzki, et al.
Genes|November 27, 2021
Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at LargeNa Pu, Emmanuelle Masson, David N Cooper, et al.
Nucleic Acids Research|April 24, 2021
MutationTaster2021Robin Steinhaus, Sebastian Proft, Markus Schuelke, et al.
Pageof 40

Showing results (101-110 of 398) with videos related to

Sort By:
Pageof 40
Nucleic Acids Research|May 21, 2019
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variantsJana Marie Schwarz, Daniela Hombach, Sebastian Köhler, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A legal framework for biobanking: the German experienceJürgen Simon, Rainer Paslack, Jürgen Robienski, et al.
Current Opinion in Genetics & Development|May 1, 2007
Gain-of-glycosylation mutationsGuillaume Vogt, Benoît Vogt, Nadia Chuzhanova, et al.
Nucleic Acids Research|April 22, 2015
Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomesAlbino Bacolla, Xiao Zhu, Hanning Chen, et al.
Human Mutation|December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexityNadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, et al.
Human Genomics|September 18, 2010
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotidesDavid N Cooper, Matthew Mort, Peter D Stenson, et al.
Annals of Neurology|January 26, 2012
Exome sequencing: dual role as a discovery and diagnostic toolChee-Seng Ku, David N Cooper, Constantin Polychronakos, et al.
Human Genetics|May 4, 2011
Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disordersKim Fechtel, Marika L Osterbur, Hildegard Kehrer-Sawatzki, et al.
Genes|November 27, 2021
Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at LargeNa Pu, Emmanuelle Masson, David N Cooper, et al.
Nucleic Acids Research|April 24, 2021
MutationTaster2021Robin Steinhaus, Sebastian Proft, Markus Schuelke, et al.
Pageof 40