Suchergebnisse - Angela Peron

Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder von Luigi M. Romito, Fabiana Colucci, Valentina Leta, Celeste Panteghini, Roberta Telese, Gianluca Tolva, Roberta Villa, Antonio E. Elia, Roberto Eleopra, Angela Peron, Barbara Garavaglia, Maria Iascone

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Genotypes and Phenotypes of Patients With TSPEAR ‐Related Disorder: Evidence of a Predominant Dental Phenotype von Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron

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Cover Image, Volume 200A, Number 5, May 2026 von Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero, Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms von Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Charles Coutton, Sara Loddo, Antonio Novelli, Bruno Dallapiccola, Maria Cristina Digilio, Silvana Briuglia, Laura Bernardini, Paolo Fontana, Agnieszka Madej‐Pilarczyk, Marlena Młynek, Luigia De Falco, Fabio Acquaviva, Daniele De Brasi, Laurence Faivre, Lucie Dauver, Nouf Alnuaimi, Patrick Callier, Valentina Trevisan, Roberta Onesimo, Chiara Leoni, Giuseppe Zampino, Giovanni Neri, Geoffroy Delplancq, Laurence Perrin, Susan M. White, Renzo Guerrini, Davide Mei, Ilaria Sani, Marilena Pantaleo, Angela Peron, Nicola Brunetti‐Pierri

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