Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.
(2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics. pp. 411-421.