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Edward V Ball

Showing results (11-20 of 25) with videos related to

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Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.
Genome Biology|January 24, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicingMatthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|June 18, 2011
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited diseaseAndreas Wolf, Amke Caliebe, Nick S T Thomas, et al.
Genome Biology|January 24, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicingMatthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Human Mutation|December 17, 2021
Distinct sequence features underlie microdeletions and gross deletions in the human genomeMengling Qi, Peter D Stenson, Edward V Ball, et al.
Human Genetics|March 29, 2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Mutation|May 20, 2003
Human Gene Mutation Database (HGMD): 2003 updatePeter D Stenson, Edward V Ball, Matthew Mort, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD<sup>®</sup>): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genetics|November 7, 2022
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connectionsCong Fan, Ken Chen, Yukai Wang, et al.
Pageof 3