COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

بواسطة Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
الحاوية / القاعدة Front Genet (2021)

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient

بواسطة Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
الحاوية / القاعدة Mol Syndromol (2019)

SUN-362 Bone Involvement in Adult Patients Affected with Ehlers-Danlos Syndromes

بواسطة Eller-Vainicher, Cristina, Grassi, Giorgia, Chiodini, Iacopo, Cairoli, Elisa, Palmieri, Serena, Franchetti, Sara, Marinelli, Barbara, Castronovo, Paola, Arosio, Maura, Bassotti, Alessandra
الحاوية / القاعدة J Endocr Soc (2020)

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

بواسطة Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
منشور في 2010

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

بواسطة Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia
منشور في 2006

FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family

بواسطة Cucinotta, Francesca, Ricciardello, Arianna, Turriziani, Laura, Calabrese, Giorgia, Briguglio, Marilena, Boncoddo, Maria, Bellomo, Fabiana, Tomaiuolo, Pasquale, Martines, Silvia, Bruschetta, Marianna, La Fauci Belponer, Francesca, Di Bella, Tiziana, Colombi, Costanza, Baccarin, Marco, Picinelli, Chiara, Castronovo, Paola, Lintas, Carla, Sacco, Roberto, Biederer, Thomas, Kellam, Barbara, Scherer, Stephen W., Persico, Antonio M.
الحاوية / القاعدة Mol Genet Genomic Med (2020)