BRUNO LUCIA PIA

Martin, S., Kyosovska-Peshtenska, G., Audi, J., Zarakowska, K., Grauman, Å., Veldwijk, J., et al. (2026). Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022. ORPHANET JOURNAL OF RARE DISEASES, 21(1) [10.1186/s13023-025-04179-0]. Dettaglio

Franco, G., Bruno, L., Alviano, A., Vankann, L., Brümmendorf, T., Guerra, F., et al. (2026). Cytopenia, Hypocellular Bone Marrow, and Shortened Telomere Length Beyond Biallelic Telomere Biology Gene Mutations. PEDIATRIC BLOOD & CANCER, 73(4 (April 2026)) [10.1002/1545-5017.70150]. Dettaglio

Di Majo, B., Leoni, C., Cartisano, E., Fossati, C., Viscogliosi, G., Trevisan, V., et al. (2025). Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort. FRONTIERS IN IMMUNOLOGY, 16 [10.3389/fimmu.2025.1598896]. Dettaglio

Engel, C., Rendek, M., Assoumani, J., Argilli, E., Ariani, F., Avice-Denizet, A., et al. (2025). Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. EUROPEAN JOURNAL OF HUMAN GENETICS, 33(8), 989-996 [10.1038/s41431-025-01884-z]. Dettaglio

Martin, S., Angolini, E., Audi, J., Bertini, E., Bruno, L., Coulter, J., et al. (2024). Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ OPEN, 14(4) [10.1136/bmjopen-2023-081835]. Dettaglio