Items where authors include "Zaki, M.S."

Article

Aughey, G.N., Cali, E., Maroofian, R. orcid.org/0000-0001-6763-1542 et al. (53 more authors) (2025) Clinical and genetic characterization of a progressive RBL2 associated neurodevelopmental disorder. Brain, 148 (4). pp. 1194-1211. ISSN 0006-8950

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