Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Paola Salmin"'
Autor:
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq Froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph D. Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero, Alfredo Brusco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ab9459ff9f78a1e3d9adca5f8adb99
https://hdl.handle.net/2318/1903052
https://hdl.handle.net/2318/1903052
Autor:
Alfredo Brusco, Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella, Anthony Battaglia, Luca Bertoli, Antonio Fadda, Flavia Palermo, Diana Carli, Alessandro Mussa, Paola Dimartino, Alessandro Bruselles, Tawfiq froukh, Giorgia Mandrile, Barbara Pasini, Silvia De Rubeis, Joseph Buxbaum, Tommaso Pippucci, Marco Tartaglia, Marzia Rossato, Massimo Delledonne, Giovanni Battista Ferrero
Despite major technical and genetic advances, more than half of the neurodevelopmental disorders (NDDs) cases remain undiagnosed. We explored the frequency of non-random XCI in the mothers of male patients and in affected females from a clinically he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4885a4f0181de9503f8298f60016ebd8
https://doi.org/10.21203/rs.3.rs-2179710/v1
https://doi.org/10.21203/rs.3.rs-2179710/v1
Autor:
Claudia, Cagnoli, Alessandro, Brussino, Cecilia, Mancini, Marina, Ferrone, Laura, Orsi, Paola, Salmin, Patrizia, Pappi, Elisa, Giorgio, Elisa, Pozzi, Simona, Cavalieri, Eleonora, Di Gregorio, Marta, Ferrero, Alessandro, Filla, Giuseppe, De Michele, Cinzia, Gellera, Caterina, Mariotti, Suran, Nethisinghe, Paola, Giunti, Giovanni, Stevanin, Alfredo, Brusco
Publikováno v:
The Journal of molecular diagnostics : JMD. 20(3)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG)