检索结果 - Clémence Vanlerberghe

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  1. 1
    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants 由 Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier‐Hanu, Florence Petit

    出版 2018
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  2. 2
    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 由 Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu

    出版 2017
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    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 由 Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    出版 2023
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