Not logged inThe neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde .png)
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SaveMolecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationMaillard, Pierre-Yves; Baer, Sarah; Schaefer, Elise; Desnous, Beatrice; Villeneuve, Nathalie; Lepine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amelie; Porter, Louise Frances; Perriard, Caroline; Warde, Marie-Therese Abi; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaetan; Putoux, Audrey; Ville, Dorothee; Mignot, Cyril; Heron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlene; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Veronique; Patat, Olivier; Lefranc, Jeremie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; De Saint Martin, Anne; Milh, Mathieu Share Save 
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