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Human Mutation
|
November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations
Guojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG
|
October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variants
Luisa Azevedo, Matthew Mort, Antonio C Costa, et al.
Database : the Journal of Biological Databases and Curation
|
June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in Egas
Sérgio 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 disease
Mónica Lopes-Marques, Matthew Mort, João Carneiro, 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 regularity
Imtiaz A Khan, Matthew Mort, Paul R Buckland, et al.
Genome Biology
|
March 19, 2013
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels
Huiying Zhao, Yuedong Yang, Hai Lin, et al.
Genome Biology
|
January 20, 2017
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations
Siqi Liang, Nathaniel D Tippens, Yaoda Zhou, et al.
Human Genomics
|
July 2, 2014
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Hashem A Shihab, Julian Gough, Matthew Mort, et al.
Human Molecular Genetics
|
January 18, 2014
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
Xinjun Zhang, Hai Lin, Huiying Zhao, et al.
Journal of Huntington'S Disease
|
September 24, 2015
Huntingtin Exists as Multiple Splice Forms in Human Brain
Matthew Mort, Francesca A Carlisle, Adrian J Waite, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 88) with videos related to
Sort By:
Page
of 9
Human Mutation
|
November 11, 2010
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations
Guojie Zhang, Zhang Pei, Michael Krawczak, et al.
European Journal of Human Genetics : EJHG
|
October 6, 2016
Improving the in silico assessment of pathogenicity for compensated variants
Luisa Azevedo, Matthew Mort, Antonio C Costa, et al.
Database : the Journal of Biological Databases and Curation
|
June 10, 2016
Mining clinical attributes of genomic variants through assisted literature curation in Egas
Sérgio 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 disease
Mónica Lopes-Marques, Matthew Mort, João Carneiro, 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 regularity
Imtiaz A Khan, Matthew Mort, Paul R Buckland, et al.
Genome Biology
|
March 19, 2013
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels
Huiying Zhao, Yuedong Yang, Hai Lin, et al.
Genome Biology
|
January 20, 2017
iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations
Siqi Liang, Nathaniel D Tippens, Yaoda Zhou, et al.
Human Genomics
|
July 2, 2014
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
Hashem A Shihab, Julian Gough, Matthew Mort, et al.
Human Molecular Genetics
|
January 18, 2014
Impact of human pathogenic micro-insertions and micro-deletions on post-transcriptional regulation
Xinjun Zhang, Hai Lin, Huiying Zhao, et al.
Journal of Huntington'S Disease
|
September 24, 2015
Huntingtin Exists as Multiple Splice Forms in Human Brain
Matthew Mort, Francesca A Carlisle, Adrian J Waite, et al.
Page
of 9