Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients by Tortorella Gaetano, Loddo Sara, Bernardini Laura, Severino Mariasavina, Micheletti Serena, Germanò Eva, Ferraris Alessandro, Giordano Lucio, Pinelli Lorenzo, Briguglio Marilena, Ormitti Francesca, Gasparotti Roberto, Rossi Andrea, Valente Enza

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome by Giordano Lucio, Accorsi Patrizia, Finelli Palma, Marchi Margherita, Camporeale Nicole, Russo Silvia, Recalcati Maria, Ballarati Lucia, Vignoli Aglaia, Giardino Daniela, La Briola Francesca, Chiesa Valentina, Canevini Maria, Larizza Lidia

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Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients by Uzielli Maria, Divizia Maria T, Atzeri Francesca, Giordano Lucio, Colapietro Patrizia, Manzini Stefano, Mottadelli Federica, Castronovo Paola, Gervasini Cristina, Milani Donatella, Bentivegna Angela, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI by Poretti Andrea, Vitiello Giuseppina, Hennekam Raoul CM, Arrigoni Filippo, Bertini Enrico, Borgatti Renato, Brancati Francesco, D'Arrigo Stefano, Faravelli Francesca, Giordano Lucio, Huisman Thierry AGM, Iannicelli Miriam, Kluger Gerhard, Kyllerman Marten, Landgren Magnus, Lees Melissa M, Pinelli Lorenzo, Romaniello Romina, Scheer Ianina, Schwarz Christoph E, Spiegel Ronen, Tibussek Daniel, Valente Enza, Boltshauser Eugen

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