Výsledky vyhledávání - Cavalieri, Simona

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  1. 1
    Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)

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

    Vydáno 2013
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  2. 2
    Functional Characterization and Targeted Correction of ATM Mutations Identified in Japanese Patients with Ataxia-Telangiectasia

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

    Vydáno 2011
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  3. 3
    SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

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

    Vydáno 2013
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  4. 4
    In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients

    In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients Autor 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

    Vydáno 2020
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  5. 5
    An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

    An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 Autor 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

    Vydáno 2015
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  6. 6
    Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

    Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH Autor 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

    Vydáno 2014
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  7. 7
    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

    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 Autor 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

    Vydáno 2013
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