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Author/Creator Actis, Chiara

1. A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia. Issue 8 (28th May 2018)

Authors:
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
Journal:
Human mutation
Issue:
Volume 39:Issue 8(2018)
Page Start:
1102
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Issue 1 (December 2018)

Authors:
Aspesi, Anna; Monteleone, Valentina; Betti, Marta; Actis, Chiara; Morleo, Giulia; Sculco, Marika; Guarrera, Simonetta; Wlodarski, Marcin; Ramenghi, Ugo; Santoro, Claudio; Ellis, Steven; Loreni, Fabrizio; Follenzi, Antonia; Dianzani, Irma
Journal:
Scientific reports
Issue:
Volume 8:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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