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(2023) Corrigendum to �Evaluation of NF1 and RASA1 gene expression in endometriosis� Eur J Obstetr Gynecol Reprod Biol X 15 (2022) 100152 (European Journal of Obstetrics & Gynecology and Reproductive Biology: X (2022) 15, (S2590161322000126), (10.1016/j.eurox.2022.100152)). European Journal of Obstetrics and Gynecology and Reproductive Biology: X.
(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.
(2021) Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082.
(2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics. pp. 411-421.