Items where authors include "Bubshait, D.K."

Article

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