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David N Cooper

Showing results (81-90 of 398) with videos related to

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Translational Psychiatry|March 18, 2021
Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics dataDan He, Cong Fan, Mengling Qi, et al.
Nucleic Acids Research|February 10, 2017
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variantsCarolin Knecht, Matthew Mort, Olaf Junge, et al.
Human Mutation|August 20, 2005
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversionsJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Nature Reviews. Genetics|September 12, 2007
Gene conversion: mechanisms, evolution and human diseaseJian-Min Chen, David N Cooper, Nadia Chuzhanova, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genetics|May 7, 2018
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletionsLisa Neuhäusler, Anna Summerer, David N Cooper, et al.
Genome Research|November 18, 2011
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited diseaseClaudio Casola, Ugne Zekonyte, Andrew D Phillips, et al.
Genome Research|July 14, 2011
Loss of exon identity is a common mechanism of human inherited diseaseTimothy Sterne-Weiler, Jonathan Howard, Matthew Mort, et al.
Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifsShaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.
Pageof 40

Showing results (81-90 of 398) with videos related to

Sort By:
Pageof 40
Translational Psychiatry|March 18, 2021
Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics dataDan He, Cong Fan, Mengling Qi, et al.
Nucleic Acids Research|February 10, 2017
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variantsCarolin Knecht, Matthew Mort, Olaf Junge, et al.
Human Mutation|August 20, 2005
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversionsJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Plos One|September 11, 2013
Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutationStefano Regis, Fabio Corsolini, Serena Grossi, et al.
Nature Reviews. Genetics|September 12, 2007
Gene conversion: mechanisms, evolution and human diseaseJian-Min Chen, David N Cooper, Nadia Chuzhanova, et al.
Human Mutation|January 12, 2005
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.
Human Genetics|May 7, 2018
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletionsLisa Neuhäusler, Anna Summerer, David N Cooper, et al.
Genome Research|November 18, 2011
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited diseaseClaudio Casola, Ugne Zekonyte, Andrew D Phillips, et al.
Genome Research|July 14, 2011
Loss of exon identity is a common mechanism of human inherited diseaseTimothy Sterne-Weiler, Jonathan Howard, Matthew Mort, et al.
Human Mutation|August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifsShaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.
Pageof 40