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David N Cooper

Showing results (151-160 of 398) with videos related to

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Human Molecular Genetics|August 7, 2015
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patternsTychele N Turner, Christopher Douville, Dewey Kim, et al.
Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.
Database : the Journal of Biological Databases and Curation|June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in EgasSérgio Matos, David Campos, Renato Pinho, et al.
Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.
Human Genetics|December 17, 2002
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1Meena Upadhyaya, Elisa Majounie, Peter Thompson, et al.
In Silico Biology|June 23, 2006
In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularityImtiaz A Khan, Matthew Mort, Paul R Buckland, et al.
Gut|March 22, 2017
In vitro and in silico evidence against a significant effect of the <i>SPINK1</i> c.194G>A variant on pre-mRNA splicingHao Wu, Arnaud Boulling, David N Cooper, et al.
Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.
Transfusion|May 23, 2012
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanismsJian-Min Chen, Yann Fichou, Déborah Jamet, et al.
Human Mutation|August 9, 2005
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexityEdward V Ball, Peter D Stenson, Shaun S Abeysinghe, et al.
Pageof 40

Showing results (151-160 of 398) with videos related to

Sort By:
Pageof 40
Human Molecular Genetics|August 7, 2015
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patternsTychele N Turner, Christopher Douville, Dewey Kim, et al.
Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.
Database : the Journal of Biological Databases and Curation|June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in EgasSérgio Matos, David Campos, Renato Pinho, et al.
Human Genomics|February 23, 2024
Meta-analysis of 46,000 germline de novo mutations linked to human inherited diseaseMónica Lopes-Marques, Matthew Mort, João Carneiro, et al.
Human Genetics|December 17, 2002
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1Meena Upadhyaya, Elisa Majounie, Peter Thompson, et al.
In Silico Biology|June 23, 2006
In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularityImtiaz A Khan, Matthew Mort, Paul R Buckland, et al.
Gut|March 22, 2017
In vitro and in silico evidence against a significant effect of the <i>SPINK1</i> c.194G>A variant on pre-mRNA splicingHao Wu, Arnaud Boulling, David N Cooper, et al.
Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.
Transfusion|May 23, 2012
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanismsJian-Min Chen, Yann Fichou, Déborah Jamet, et al.
Human Mutation|August 9, 2005
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexityEdward V Ball, Peter D Stenson, Shaun S Abeysinghe, et al.
Pageof 40