Rezultati - Charles Van Goethem

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  1. 1
    MobiDetails: online DNA variants interpretation

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

    Izdano 2020
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  2. 2
    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

    RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology od 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

    Izdano 2022
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  3. 3
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation od 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

    Izdano 2023
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