Items where authors include "Efthymiou, S."

Article

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2024) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain. ISSN 0006-8950

Saffari, A., Lau, T. orcid.org/0000-0003-0514-1729, Tajsharghi, H. et al. (98 more authors) (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 0006-8950