Pubblicazioni

Healthcare recommendations for Joubert syndrome

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Bachmann-Gagescu, R.; Dempsey, J. C.; Bulgheroni, S.; Chen, M. L.; D'Arrigo, S.; Glass, I. A.; Heller, T.; Heon, E.; Hildebrandt, F.; Joshi, N.; Knutzen, D.; Kroes, H. Y.; Mack, S. H.; Nuovo, S.; Parisi, M. A.; Snow, J.; Summers, A. C.; Symons, J. M.; Zein, W. M.; Boltshauser, E.; Sayer, J. A.; Gunay-Aygun, M.; Valente, E. M.; Doherty, D.

Anomalous Origin of Left Common Carotid Artery from Left Pulmonary Artery in a 22q11.2 Deletion Syndrome Newborn with Right Aortic Arch and Aberrant Left Subclavian Artery

2020 - CIRCULATION. CARDIOVASCULAR IMAGING

Vignaroli, W.; Curione, D.; Perri, G.; Secinaro, A.; Filippelli, S.; Iorio, F. S.

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