Pubblicazioni

Exome Sequencing in Individuals with Isolated Biliary Atresia

2020 - SCIENTIFIC REPORTS

Rajagopalan, R.; Tsai, E. A.; Grochowski, C. M.; Kelly, S. M.; Loomes, K. M.; Spinner, N. B.; Devoto, M.

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