Items where authors include "Alkuraya, F.S."

Article

Ni, C., Wei, Y., Vona, B. et al. (53 more authors) (2025) A programmed decline in ribosome levels governs human early neurodevelopment. Nature Cell Biology, 27. pp. 1240-1255. ISSN 1465-7392

Saida, K., Maroofian, R., Sengoku, T. et al. (84 more authors) (2023) Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine, 25 (1). pp. 90-102. ISSN 1098-3600

Rosenhahn, E., O’Brien, T.J., Zaki, M.S. et al. (44 more authors) (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics, 109 (8). pp. 1421-1435. ISSN 0002-9297