De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies - Weisz-Hubshman, Monika; Burrage, Lindsay C.; Jangam, Sharayu V.; Rosenfeld, Jill A.; Hardenberg, Sandra von; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; et al. (Genetics in medicine, 2025)
Online verfügbar: 28. Januar 2025, Artikelversion: 04. März 2025