نتائج البحث - Cavalieri, Simona

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) حسب Cavalieri, Simona, Pozzi, Elisa, Gatti, Richard A, Brusco, Alfredo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Functional Characterization and Targeted Correction of ATM Mutations Identified in Japanese Patients with Ataxia-Telangiectasia حسب Nakamura, Kotoka, Du, Liutao, Tunuguntla, Rashmi, Fike, Francesca, Cavalieri, Simona, Morio, Tomohiro, Mizutani, Shuki, Brusco, Alfredo, Gatti, Richard A

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein حسب Nanetti, Lorenzo, Cavalieri, Simona, Pensato, Viviana, Erbetta, Alessandra, Pareyson, Davide, Panzeri, Marta, Zorzi, Giovanna, Antozzi, Carlo, Moroni, Isabella, Gellera, Cinzia, Brusco, Alfredo, Mariotti, Caterina

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients حسب Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 حسب Mancini, Cecilia, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas, Padiath, Quasar S, Hakonarson, Hakon, Zhang, Xiuqing, Brusco, Alfredo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH حسب Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia حسب Di Gregorio, Eleonora, Bianchi, Federico T., Schiavi, Alfonso, Chiotto, Alessandra M.A., Rolando, Marco, di Cantogno, Ludovica Verdun, Grosso, Enrico, Cavalieri, Simona, Calcia, Alessandro, Lacerenza, Daniela, Zuffardi, Orsetta, Retta, Saverio Francesco, Stevanin, Giovanni, Marelli, Cecilia, Durr, Alexandra, Forlani, Sylvie, Chelly, Jamel, Montarolo, Francesca, Tempia, Filippo, Beggs, Hilary E., Reed, Robin, Squadrone, Stefania, Abete, Maria C., Brussino, Alessandro, Ventura, Natascia, Di Cunto, Ferdinando, Brusco, Alfredo

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل