ACTIS, Chiara
ACTIS, Chiara
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A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
2018-01-01 Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma
Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy
2017-01-01 Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia | 1-gen-2018 | Aspesi, Anna; Betti, Marta; Sculco, Marika; Actis, Chiara; Olgasi, Cristina; Wlodarski, Marcin W.; Vlachos, Adrianna; Lipton, Jeffrey M.; Ramenghi, Ugo; Santoro, Claudio; Follenzi, Antonia; Ellis, Steven R.; Dianzani, Irma | |
| Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy | 1-gen-2017 | Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin W.; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven R.; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma |