Výsledky vyhledávání - Kévin Cassinari

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  1. 1
    Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples

    Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples Autor Kévin Cassinari, Élodie Alessandri-Gradt, Pascal Chambon, Françoise Charbonnier, Ségolène Gracias, Ludivine Beaussire, Kévin Alexandre, Nasrin Sarafan‐Vasseur, Claude Houdayer, Manuel Etienne, François Caron, Jean‐Christophe Plantier, Thierry Frébourg

    Vydáno 2020
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  2. 2
    Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

    Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation Autor Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne‐Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Géraldine Joly‐Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean‐François Deleuze, Isabelle Tournier, Françoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Pascale Saugier‐Veber, Stéphanie Baert‐Desurmont, Dominique Campion, Anne Rovelet‐Lecrux, Gaël Nicolas

    Vydáno 2020
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  3. 3
    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

    Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features Autor Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne, Caroline Racine, Thierry Rousseau, Sophie Nambot, Ange‐Line Bruel, Sébastien Moutton, Chloé Quēlin, Cindy Colson, Anne‐Claire Bréhin, Anne-Marie Guerrot, Caroline Rooryck, Audrey Putoux, Patricia Blanchet, Sylvie Odent, Élise Schaefer, Odile Boute, Alice Goldenberg, Agnès Guichet, Carine Abel, Godeliève Morel, Mélanie Fradin, Bertrand Isidor, Marie Vincent, Christine Francannet, Gabriella Vera, Florence Petit, Mathilde Nizon, Constance Wells, Médéric Jeanne, Caroline Deiller, Alban Ziegler, Manon Godin, Pascale Saugier‐Veber, Kévin Cassinari, Pierre Blanc, E. Simon, Christine Binquet, Yannis Duffourd, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran Mau‐Them, Nicolas Bourgon

    Vydáno 2025
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  4. 4
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Autor Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Vydáno 2025
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