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Micale, Lucia and Augello, Bartolomeo and Maffeo, Claudia and Selicorni, Angelo and Zucchetti, Federica and Fusco, Carmela and De Nittis, Pasquelena and Pellico, Maria Teresa and Mandriani, Barbara and Fischetto, Rita and Boccone, Loredana and Silengo, Margherita and Biamino, Elisa and Perria, Chiara and Sotgiu, Stefano and Serra, Gigliola and Lapi, Elisabetta and Neri, Marcella and Ferlini, Alessandra and Cavaliere, Maria Luigia and Chiurazzi, Pietro and Della Monica, Matteo and Scarano, Gioacchino and Faravelli, Francesca and Ferrari, Paola and Mazzanti, Laura and Pilotta, Alba and Patricelli, Maria Grazia and Bedeschi, Maria Francesca and Benedicenti, Francesco and Prontera, Paolo and Toschi, Benedetta and Salviati, Leonardo and Melis, Daniela and Di Battista, Eliana and Vancini, Alessandra and Garavelli, Livia and Zelante, Leopoldo and Merla, Giuseppe (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Human mutation, Vol. 35 (7), p. 841-850. ISSN 1059-7794. eISSN 1098-1004. Article.

Marangi, Giuseppe and Ricciardi, Stefania and Orteschi, Daniela and Lattante, Serena and Murdolo, Marina and Dallapiccola, Bruno and Biscione, Chiara and Lecce, Rosetta and Chiurazzi, Pietro and Romano, Corrado and Greco, Donatella and Pettinato, Rosa and Sorge, Giovanni and Pantaleoni, Chiara and Alfei, Enrico and Toldo, Irene and Magnani, Cinzia and Bonanni, Paolo and Martinez, Federica and Serra, Gigliola and Battaglia, Domenica Immacolata and Lettori, Donatella and Vasco, Gessica and Baroncini, Anna and Daolio, Cecilia and Zollino, Marcella (2011) The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. American Journal of Medical Genetics Part A, Vol. 155 (7), p. 1536-1545. ISSN 1552-4825. eISSN 1552-4833. Article.

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