Items where authors include "Nambot, S."

Article

Zagorec, N., Calamel, A., Delaporte, M. et al. (24 more authors) (2024) Clinical spectrum and prognosis of atypical autosomal dominant polycystic kidney disease caused by monoallelic pathogenic variants of IFT140. American Journal of Kidney Diseases. ISSN 0272-6386

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