Author: "Baux, David" / Journal: european journal of human genetics - Searchworks@Jio Institute Digital Library Search Results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Your search keyword '"Baux, David"' showing total 8 results

Start Over Author "Baux, David" Journal european journal of human genetics

8 results on '"Baux, David"'

1. Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

Author: Vaché, Christel, Cubedo, Nicolas, Mansard, Luke, Sarniguet, Jérôme, Baux, David, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Touraine, Renaud, Lina-Granade, Geneviève, Cossée, Mireille, Bergougnoux, Anne, Kalatzis, Vasiliki, Rossel, Mireille, and Roux, Anne-Françoise
Published: 2023
Full Text: View/download PDF

2. Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Author: Vaché, Christel, Baux, David, Bianchi, Julie, Baudoin, Corinne, Faugère, Valérie, Francannet, Christine, Koenig, Michel, Kalatzis, Vasiliki, and Roux, Anne-Françoise
Published: 2022
Full Text: View/download PDF

3. MobiDetails: online DNA variants interpretation

Author: Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, and Roux, Anne-Françoise
Published: 2021
Full Text: View/download PDF

4. Correction: MobiDetails: online DNA variants interpretation

Author: Baux, David, Van Goethem, Charles, Ardouin, Olivier, Guignard, Thomas, Bergougnoux, Anne, Koenig, Michel, and Roux, Anne-Françoise
Published: 2021
Full Text: View/download PDF

5. Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss

Author: Vaché, Christel, primary, Baux, David, additional, Bianchi, Julie, additional, Baudoin, Corinne, additional, Faugère, Valérie, additional, Francannet, Christine, additional, Koenig, Michel, additional, Kalatzis, Vasiliki, additional, and Roux, Anne-Françoise, additional
Published: 2021
Full Text: View/download PDF

6. Correction: MobiDetails: online DNA variants interpretation

Author: Baux, David, primary, Van Goethem, Charles, additional, Ardouin, Olivier, additional, Guignard, Thomas, additional, Bergougnoux, Anne, additional, Koenig, Michel, additional, and Roux, Anne-Françoise, additional
Published: 2020
Full Text: View/download PDF

7. MobiDetails: online DNA variants interpretation

Author: Baux, David, primary, Van Goethem, Charles, additional, Ardouin, Olivier, additional, Guignard, Thomas, additional, Bergougnoux, Anne, additional, Koenig, Michel, additional, and Roux, Anne-Françoise, additional
Published: 2020
Full Text: View/download PDF

8. The USH2A c.2299delG mutation: dating its common origin in a Southern European population

Author: Aller, Elena, primary, Larrieu, Lise, additional, Jaijo, Teresa, additional, Baux, David, additional, Espinós, Carmen, additional, González-Candelas, Fernando, additional, Nájera, Carmen, additional, Palau, Francesc, additional, Claustres, Mireille, additional, Roux, Anne-Françoise, additional, and Millán, José M, additional
Published: 2010
Full Text: View/download PDF

Catalog

Books, media, physical & digital resources

See catalog results