Результаты поиска - David Baux

  • Отображение 1 - 12 результаты of 12
Отмена результатов
  1. 1
    Assessment of the latest NGS enrichment capture methods in clinical context

    Assessment of the latest NGS enrichment capture methods in clinical context по Gema García‐García, David Baux, Valérie Faugère, Mélody Moclyn, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2016
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  2. 2
    MobiDetails: online DNA variants interpretation

    MobiDetails: online DNA variants interpretation по David Baux, Charles Van Goethem, Olivier Ardouin, Thomas Guignard, Anne Bergougnoux, M. Kœnig, Anne‐Françoise Roux

    Опубликовано 2020
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  3. 3
    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations

    Whole<i>USH2A</i>Gene Sequencing Identifies Several New Deep Intronic Mutations по Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, M. Kœnig, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2015
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  4. 4
    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles по Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne‐Françoise Roux, Vasiliki Kalatzis

    Опубликовано 2019
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  5. 5
    Experience of targeted Usher exome sequencing as a clinical test

    Experience of targeted Usher exome sequencing as a clinical test по Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2013
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  6. 6
    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

    Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots по David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2014
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  7. 7
    Non-USH2A mutations in USH2 patients

    Non-USH2A mutations in USH2 patients по Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina‐Granade, James Lespinasse, Albert David, Bertrand Isidor, G Morin, Sue Malcolm, Sylvie Tuffery‐Giraud, Mireille Claustres, Anne‐Françoise Roux

    Опубликовано 2011
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  8. 8
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect по Alisdair McNeill, Emanuela Iovino, Luke Mansard, Christel Vaché, David Baux, Emma Bedoukian, Helen Cox, John Dean, David Goudie, Ajith Kumar, Ruth Newbury‐Ecob, Chiara Fallerini, Alessandra Renieri, Diego Lopergolo, Francesca Mari, Catherine Blanchet, Marjolaine Willems, Anne‐Françoise Roux, Tommaso Pippucci, Eric Delpire

    Опубликовано 2020
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  9. 9
    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology по Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli, Lise Larrieu, Mathilde Renaud, Jessica Varilh, Morgane Pointaux, David Baux, Olivier Ardouin, Charles Van Goethem, Magali Taulan‐Cadars, Benjamin Daumas Duport, Anne Bergougnoux, Anne-Gaëlle Corbillé, Mireille Cossée, Raúl Juntas Morales, Sylvie Tuffery‐Giraud, M. Kœnig, Bertrand Isidor, Marie-Claire Vincent

    Опубликовано 2022
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  10. 10
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation по Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    Опубликовано 2023
    Полный текст Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  11. 11
    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

    Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients по David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux

    Опубликовано 2017
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  12. 12
    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants по Mireille Claustres, C. Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, I. Duguépéroux, Claude Férec, G. Lalau, A. Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Éric Bieth, Marie‐Claire Malinge, Marie‐Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, C. Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil

    Опубликовано 2017
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:

Инструменты поиска: