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Matthew Mort

Showing results (31-40 of 88) with videos related to

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Journal of Molecular Biology|January 7, 2014
Identification of novel alternative splicing events in the huntingtin gene and assessment of the functional consequences using structural protein homology modellingAlis C Hughes, Matthew Mort, Lyn Elliston, et al.
BMC Bioinformatics|October 8, 2017
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genomeMichael Ferlaino, Mark F Rogers, Hashem A Shihab, et al.
Genome Research|January 20, 2021
A platform for curated products from novel open reading frames prompts reinterpretation of disease variantsMatthew D C Neville, Robin Kohze, Chaitanya Erady, et al.
Human Mutation|June 27, 2017
Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variantsMark Livingstone, Lukas Folkman, Yuedong Yang, et al.
Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|January 10, 2015
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levelsLukas Folkman, Yuedong Yang, Zhixiu Li, et al.
Plos Computational Biology|August 27, 2016
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited DiseaseJose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, et al.
Genome Research|January 1, 2009
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsJeremy R Sanford, Xin Wang, Matthew Mort, 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.
Human Mutation|September 9, 2016
ExonImpact: Prioritizing Pathogenic Alternative Splicing EventsMeng Li, Weixing Feng, Xinjun Zhang, et al.
Pageof 9

Showing results (31-40 of 88) with videos related to

Sort By:
Pageof 9
Journal of Molecular Biology|January 7, 2014
Identification of novel alternative splicing events in the huntingtin gene and assessment of the functional consequences using structural protein homology modellingAlis C Hughes, Matthew Mort, Lyn Elliston, et al.
BMC Bioinformatics|October 8, 2017
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genomeMichael Ferlaino, Mark F Rogers, Hashem A Shihab, et al.
Genome Research|January 20, 2021
A platform for curated products from novel open reading frames prompts reinterpretation of disease variantsMatthew D C Neville, Robin Kohze, Chaitanya Erady, et al.
Human Mutation|June 27, 2017
Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variantsMark Livingstone, Lukas Folkman, Yuedong Yang, et al.
Genome Medicine|April 8, 2009
The Human Gene Mutation Database: 2008 updatePeter D Stenson, Matthew Mort, Edward V Ball, et al.
Bioinformatics (Oxford, England)|January 10, 2015
DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levelsLukas Folkman, Yuedong Yang, Zhixiu Li, et al.
Plos Computational Biology|August 27, 2016
The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited DiseaseJose Lugo-Martinez, Vikas Pejaver, Kymberleigh A Pagel, et al.
Genome Research|January 1, 2009
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcriptsJeremy R Sanford, Xin Wang, Matthew Mort, 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.
Human Mutation|September 9, 2016
ExonImpact: Prioritizing Pathogenic Alternative Splicing EventsMeng Li, Weixing Feng, Xinjun Zhang, et al.
Pageof 9