1. Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency. Issue 9 (25th August 2020) Authors: Chirita-Emandi, Adela; Andreescu, Nicoleta; Popa, Cristina; Mihailescu, Alexandra; Riza, Anca-Lelia; Plesea, Razvan; Ioana, Mihai; Arghirescu, Smaranda; Puiu, Maria Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 648 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗