Resultados de búsqueda - Mathilde Pujalte
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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder por Samuel M Bradbrook, Gail Graham, Melissa T. Carter, Maria Kibaek, Christina Fagerberg, Martin J. Larsen, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Marie Vincent, Bertrand Isidor, Stephane Bezieau, Benjamin Cogne, Kathrine Bjørgo, Silja Svanstrøm Amundsen, Thomas Courtin, Lisa Emrick, Jill A. Rosenfeld, Monika Weisz‐Hubshman, Bryan C. Mak, Julian Martinez‐Agosto, Mathilde Heulin, Gilles Morin, Boris Keren, Sacha Schutz, Pauline Monin, Mathilde Pujalte, Louis Januel, Gaetan Lesca, Marie‐Noëlle Bonnet‐Dupeyron Valence, Henri Margot, Jonathan Levy, Emmanuela Iovino, Federica Isidori, Tommaso Pippucci, Francesca Montanari, Lauren Bell, Jennifer Burton, Erin Torti, Ingrid M. Wentzensen, Julien Marcadier
Publicado 2025Enlace del recurso
Artículo Open Access -
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3q29 duplications: A cohort of 46 patients and a literature review por Marie Massier, Martine Doco‐Fenzy, Matthieu Egloff, Xavier Le Guillou, Gwenaël Le Guyader, Sylvia Redon, Caroline Benech, Karine Le Millier, Kevin Uguen, Juliette Ropars, Elise Sacaze, Séverine Audebert‐Bellanger, Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Aline Vincent‐Devulder, Marta Spodenkiewicz, Clémence Jacquin, Gauthier Loron, Marie Thibaud, Geoffroy Delplancq, Sophie Brisset, Marion Lesieur‐Sebellin, Valérie Malan, Serge Romana, Marlène Rio, Sandrine Marlin, Jeanne Amiel, Valentine Marquet, Benjamin Dauriat, Kamran Moradkhani, Sandra Mercier, Bertrand Isidor, Stéphanie Arpin, Mathilde Pujalte, Guillaume Jedraszak, Céline Pebrel‐Richard, Gaëlle Salaun, Fanny Laffargue, John Boudjarane, Chantal Missirian, Nora Chelloug, Annick Toutain, Jean Chiesa, Boris Keren, Cyril Mignot, Evan Gouy, Sylvie Jaillard, Emilie Landais, Céline Poirsier
Publicado 2024Enlace del recurso
Artículo Open Access