Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, Gervasini, Cristina
Published in Human genetics (01.06.2015)
Published in Human genetics (01.06.2015)
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Journal Article
Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients
Ferrero, Giovanni Battista, Biamino, Elisa, Sorasio, Lorena, Banaudi, Elena, Peruzzi, Licia, Forzano, Serena, Verdun di Cantogno, Ludovica, Silengo, Margherita Cirillo
Published in European journal of medical genetics (01.09.2007)
Published in European journal of medical genetics (01.09.2007)
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Journal Article
Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
Ferrero, Giovanni Battista, Belligni, Elga, Sorasio, Lorena, Delmonaco, Angelo Giovanni, Oggero, Roberto, Faravelli, Francesca, Pierluigi, Mauro, Silengo, Margherita
Published in American journal of medical genetics. Part A (15.04.2006)
Published in American journal of medical genetics. Part A (15.04.2006)
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Journal Article
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
Ferrero, Giovanni Battista, Belligni, Elga, Sorasio, Lorena, Delmonaco, Angelo Giovanni, Oggero, Roberto, Faravelli, Francesca, Pierluigi, Mauro, Silengo, Margherita
Published in American Journal of Medical Genetics Part A (15.04.2006)
Published in American Journal of Medical Genetics Part A (15.04.2006)
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