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David Baux

Showing results (11-20 of 41) with videos related to

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Molecular Vision|February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohortGema García-García, Thomas Besnard, David Baux, et al.
Human Mutation|May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux, Valérie Faugère, Lise Larrieu, et al.
Scientific Reports|May 31, 2018
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapySimona Torriano, Nejla Erkilic, David Baux, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
Human Mutation|June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vaché, Thomas Besnard, Catherine Blanchet, et al.
International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
European Journal of Medical Genetics|April 21, 2009
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1FFatima Ammar-Khodja, Valérie Faugère, David Baux, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Diagnostics (Basel, Switzerland)|September 28, 2021
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case ReportCamille Cenni, Luke Mansard, Catherine Blanchet, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
Molecular Vision|February 27, 2013
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohortGema García-García, Thomas Besnard, David Baux, et al.
Human Mutation|May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genesDavid Baux, Valérie Faugère, Lise Larrieu, et al.
Scientific Reports|May 31, 2018
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapySimona Torriano, Nejla Erkilic, David Baux, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
Human Mutation|June 1, 2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndromeChristel Vaché, Thomas Besnard, Catherine Blanchet, et al.
International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
European Journal of Medical Genetics|April 21, 2009
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1FFatima Ammar-Khodja, Valérie Faugère, David Baux, et al.
Human Mutation|January 7, 2010
Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genesSandie Le Guédard-Méreuze, Christel Vaché, David Baux, et al.
Diagnostics (Basel, Switzerland)|September 28, 2021
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case ReportCamille Cenni, Luke Mansard, Catherine Blanchet, et al.
Pageof 5