Pubblicazioni

Two new RHD alleles with deletions spanning multiple exons

2021 - TRANSFUSION

Matteocci, A; Monge-Ruiz, J; Stef, M; Apraiz, ; I., Herrera-del-Val L; Mancuso, T; Fennell, K; Lopez, M; Larizgoitia-Martin, Y; Nespoli, G; Rubia-Tejero, M; Collaretti, A; Pierelli, L; Ochoa-Garay, G.

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno