Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David Baux

Showing results (21-30 of 41) with videos related to

Pageof 5
Sort By:
Molecular Genetics & Genomic Medicine|February 6, 2014
Experience of targeted Usher exome sequencing as a clinical testThomas Besnard, Gema García-García, David Baux, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
The Journal of Molecular Diagnostics : JMD|April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular DiagnosisKevin Yauy, David Baux, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG|May 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossChristel Vaché, Nicolas Cubedo, Luke Mansard, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Molecular Genetics & Genomic Medicine|February 6, 2014
Experience of targeted Usher exome sequencing as a clinical testThomas Besnard, Gema García-García, David Baux, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European populationElena Aller, Lise Larrieu, Teresa Jaijo, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
Human Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 20, 2020
Exon identity influences splicing induced by exonic variants and in silico prediction efficacyNatacha Martin, Anne Bergougnoux, Nesrine Baatallah, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
The Journal of Molecular Diagnostics : JMD|April 25, 2018
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular DiagnosisKevin Yauy, David Baux, Henri Pegeot, et al.
European Journal of Human Genetics : EJHG|May 12, 2023
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing lossChristel Vaché, Nicolas Cubedo, Luke Mansard, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Pageof 5