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RNA Biology|March 8, 2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionMarni J Falk, Xiaowu Gai, Megumi Shigematsu, et al.Nature Communications|September 30, 2022
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processingPaula Clemente, Javier Calvo-Garrido, Sarah F Pearce, et al.American Journal of Human Genetics|March 31, 2015
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCas Simons, Laurie B Griffin, Guy Helman, et al.Pageof 4