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Author/Creator Notarangelo, Angelantonio

1. Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis. (21st September 2020)

Authors:
Micale, Lucia; Cialfi, Samantha; Fusco, Carmela; Cinque, Luigia; Castellana, Stefano; Biagini, Tommaso; Talora, Claudio; Notarangelo, Angelantonio; Bisceglia, Luigi; Taruscio, Domenica; Salvatore, Marco; Castori, Marco
Journal:
Human molecular genetics
Issue:
Volume 29:Number 18(2020)
Page Start:
3122
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Issue 10 (27th June 2019)

Authors:
Morlino, Silvia; Carbone, Annalucia; Ritelli, Marco; Fusco, Carmela; Giambra, Vincenzo; Nardella, Grazia; Notarangelo, Angelantonio; Panelli, Patrizio; Mazzoccoli, Gianluigi; Zoppi, Nicoletta; Grammatico, Paola; Wade, Emma M; Colombi, Marina; Castori, Marco; Micale, Lucia
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1886
Record Type:
Journal Article
View Content:
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