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Human Mutation
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November 5, 2011
Guidelines for establishing locus specific databases
Mauno Vihinen, Johan T den Dunnen, Raymond Dalgleish, et al.
Human Mutation
|
November 5, 2013
Variobox: automatic detection and annotation of human genetic variants
Paulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
April 6, 2004
Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species
Clare S Bennett, Hamid R Khorram Khorshid, J Alexandra Kitchen, et al.
Human Mutation
|
October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standard
Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2024
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, et al.
Human Mutation
|
October 3, 2017
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
Peter J Freeman, Reece K Hart, Liam J Gretton, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 12, 2014
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease
Judy Savige, Raymond Dalgleish, Richard Gh Cotton, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2026
Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
Raymond Dalgleish, Peter J Freeman, John F Wagstaff, et al.
Disease Models & Mechanisms
|
May 16, 2022
Dissecting the phenotypic variability of osteogenesis imperfecta
Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, et al.
European Journal of Human Genetics : EJHG
|
May 20, 2020
EMQN best practice guidelines for genetic testing in dystrophinopathies
Carl Fratter, Raymond Dalgleish, Stephanie K Allen, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 47) with videos related to
Sort By:
Page
of 5
Human Mutation
|
November 5, 2011
Guidelines for establishing locus specific databases
Mauno Vihinen, Johan T den Dunnen, Raymond Dalgleish, et al.
Human Mutation
|
November 5, 2013
Variobox: automatic detection and annotation of human genetic variants
Paulo Gaspar, Pedro Lopes, Jorge Oliveira, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
April 6, 2004
Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species
Clare S Bennett, Hamid R Khorram Khorshid, J Alexandra Kitchen, et al.
Human Mutation
|
October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standard
Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Orphanet Journal of Rare Diseases
|
July 19, 2024
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, et al.
Human Mutation
|
October 3, 2017
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions
Peter J Freeman, Reece K Hart, Liam J Gretton, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 12, 2014
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease
Judy Savige, Raymond Dalgleish, Richard Gh Cotton, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2026
Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
Raymond Dalgleish, Peter J Freeman, John F Wagstaff, et al.
Disease Models & Mechanisms
|
May 16, 2022
Dissecting the phenotypic variability of osteogenesis imperfecta
Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, et al.
European Journal of Human Genetics : EJHG
|
May 20, 2020
EMQN best practice guidelines for genetic testing in dystrophinopathies
Carl Fratter, Raymond Dalgleish, Stephanie K Allen, et al.
Page
of 5