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David Baux

Showing results (31-40 of 41) with videos related to

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Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Brain : a Journal of Neurology|July 14, 2020
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defectAlisdair McNeill, Emanuela Iovino, Luke Mansard, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
Brain : a Journal of Neurology|July 14, 2020
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defectAlisdair McNeill, Emanuela Iovino, Luke Mansard, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>Luke Mansard, David Baux, Christel Vaché, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Pageof 5