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Genetic Testing and Molecular Biomarkers
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July 21, 2010
Chromosomal distribution of disease genes in the human genome
David N Cooper, Edward V Ball, Matthew Mort
Human Mutation
|
August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
Shaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.
Human Mutation
|
December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
Nadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, 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 dinucleotides
David N Cooper, Matthew Mort, Peter D Stenson, et al.
Human Genomics
|
August 3, 2011
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations
Guojie Zhang, Zhang Pei, Edward V Ball, et al.
Human Genetics
|
October 1, 2013
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genomics
|
December 30, 2009
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics
Peter D Stenson, Edward V Ball, Katy Howells, et al.
Current Protocols in Bioinformatics
|
September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution
Peter D Stenson, Edward V Ball, Matthew Mort, 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 complexity
Edward V Ball, Peter D Stenson, Shaun S Abeysinghe, et al.
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.
Page
of 3
Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Genetic Testing and Molecular Biomarkers
|
July 21, 2010
Chromosomal distribution of disease genes in the human genome
David N Cooper, Edward V Ball, Matthew Mort
Human Mutation
|
August 26, 2003
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
Shaun S Abeysinghe, Nadia Chuzhanova, Michael Krawczak, et al.
Human Mutation
|
December 24, 2002
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
Nadia A Chuzhanova, Emmanuel J Anassis, Edward V Ball, 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 dinucleotides
David N Cooper, Matthew Mort, Peter D Stenson, et al.
Human Genomics
|
August 3, 2011
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations
Guojie Zhang, Zhang Pei, Edward V Ball, et al.
Human Genetics
|
October 1, 2013
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D Stenson, Matthew Mort, Edward V Ball, et al.
Human Genomics
|
December 30, 2009
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics
Peter D Stenson, Edward V Ball, Katy Howells, et al.
Current Protocols in Bioinformatics
|
September 6, 2012
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution
Peter D Stenson, Edward V Ball, Matthew Mort, 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 complexity
Edward V Ball, Peter D Stenson, Shaun S Abeysinghe, et al.
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.
Page
of 3