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Christel Vaché

Showing results (1-10 of 25) with videos related to

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Gene|December 3, 2002
Natural antisense transcripts of hypoxia-inducible factor 1alpha are detected in different normal and tumour human tissuesFabrice Rossignol, Christel Vaché, Eric Clottes
Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, 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 lossChristel Vaché, David Baux, Julie Bianchi, et al.
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.
Environmental Toxicology and Chemistry|March 8, 2006
Drosophila melanogaster p-glycoprotein: a membrane detoxification system toward polycyclic aromatic hydrocarbon pollutantsChristel Vaché, Olivier Camares, Fabienne De Graeve, et al.
Stem Cell Research|August 27, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8Daria Mamaeva, Nejla Erkilic, Christel Vaché, 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.
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.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Gene|December 3, 2002
Natural antisense transcripts of hypoxia-inducible factor 1alpha are detected in different normal and tumour human tissuesFabrice Rossignol, Christel Vaché, Eric Clottes
Human Mutation|July 17, 2009
Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sitesSandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, et al.
Human Mutation|December 3, 2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic MutationsAlessandro Liquori, Christel Vaché, 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 lossChristel Vaché, David Baux, Julie Bianchi, et al.
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.
Environmental Toxicology and Chemistry|March 8, 2006
Drosophila melanogaster p-glycoprotein: a membrane detoxification system toward polycyclic aromatic hydrocarbon pollutantsChristel Vaché, Olivier Camares, Fabienne De Graeve, et al.
Stem Cell Research|August 27, 2025
Generation of a human iPSC line, INMi007-A, carrying compound heterozygous DCT variants associated with oculocutaneous albinism type 8Daria Mamaeva, Nejla Erkilic, Christel Vaché, 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.
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.
Pageof 3