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Matthew Mort

Showing results (1-10 of 88) with videos related to

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Genetic Testing and Molecular Biomarkers|April 7, 2010
Do inherited disease genes have distinguishing functional characteristics?David N Cooper, Matthew Mort
Cureus|December 2, 2025
Frailty as a Predictor of Outcomes in OptiflowMatthew Mort, Alwin Raju, Naina Mohan
Genetic Testing and Molecular Biomarkers|July 21, 2010
Chromosomal distribution of disease genes in the human genomeDavid N Cooper, Edward V Ball, Matthew Mort
Human Mutation|May 6, 2008
A meta-analysis of nonsense mutations causing human genetic diseaseMatthew Mort, Dobril Ivanov, David N Cooper, 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|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, 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.
European Journal of Human Genetics : EJHG|April 24, 2014
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophyJincy Winston, Laura Duerden, Matthew Mort, 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.
Human Mutation|July 29, 2011
Prediction of functional regulatory SNPs in monogenic and complex diseaseYiqiang Zhao, Wyatt T Clark, Matthew Mort, et al.
Pageof 9

Showing results (1-10 of 88) with videos related to

Sort By:
Pageof 9
Genetic Testing and Molecular Biomarkers|April 7, 2010
Do inherited disease genes have distinguishing functional characteristics?David N Cooper, Matthew Mort
Cureus|December 2, 2025
Frailty as a Predictor of Outcomes in OptiflowMatthew Mort, Alwin Raju, Naina Mohan
Genetic Testing and Molecular Biomarkers|July 21, 2010
Chromosomal distribution of disease genes in the human genomeDavid N Cooper, Edward V Ball, Matthew Mort
Human Mutation|May 6, 2008
A meta-analysis of nonsense mutations causing human genetic diseaseMatthew Mort, Dobril Ivanov, David N Cooper, 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|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, 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.
European Journal of Human Genetics : EJHG|April 24, 2014
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophyJincy Winston, Laura Duerden, Matthew Mort, 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.
Human Mutation|July 29, 2011
Prediction of functional regulatory SNPs in monogenic and complex diseaseYiqiang Zhao, Wyatt T Clark, Matthew Mort, et al.
Pageof 9