BRUNO LUCIA PIA

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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

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