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NAR Genomics and Bioinformatics
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March 20, 2025
Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs
Caroline Meguerditchian, David Baux, Thomas E Ludwig, et al.
Scientific Reports
|
February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical context
Gema García-García, David Baux, Valérie Faugère, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Mutation
|
December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Alessandro Liquori, Christel Vaché, David Baux, et al.
Molecular Therapy. Methods & Clinical Development
|
January 8, 2020
Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, et al.
European Journal of Human Genetics : EJHG
|
March 7, 2026
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research
Victor Marin, Hugo Lannes, Victor Dumont, et al.
Molecular Therapy. Methods & Clinical Development
|
December 11, 2025
Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, et al.
European Journal of Human Genetics : EJHG
|
December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
Christel Vaché, David Baux, Julie Bianchi, et al.
Human Mutation
|
February 6, 2013
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene
Caroline Raynal, David Baux, Corinne Theze, et al.
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Search research articles
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Showing results (1-10 of 41) with videos related to
Sort By:
Page
of 5
NAR Genomics and Bioinformatics
|
March 20, 2025
Enhancing the annotation of small ORF-altering variants using MORFEE: introducing MORFEEdb, a comprehensive catalog of SNVs affecting upstream ORFs in human 5'UTRs
Caroline Meguerditchian, David Baux, Thomas E Ludwig, et al.
Scientific Reports
|
February 12, 2016
Assessment of the latest NGS enrichment capture methods in clinical context
Gema García-García, David Baux, Valérie Faugère, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
Human Mutation
|
December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Alessandro Liquori, Christel Vaché, David Baux, et al.
Molecular Therapy. Methods & Clinical Development
|
January 8, 2020
Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, et al.
European Journal of Human Genetics : EJHG
|
March 7, 2026
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research
Victor Marin, Hugo Lannes, Victor Dumont, et al.
Molecular Therapy. Methods & Clinical Development
|
December 11, 2025
Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, et al.
European Journal of Human Genetics : EJHG
|
December 3, 2021
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
Christel Vaché, David Baux, Julie Bianchi, et al.
Human Mutation
|
February 6, 2013
A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene
Caroline Raynal, David Baux, Corinne Theze, et al.
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of 5