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Genetic diagnosis of Mendelian disorders via RNA sequencing
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
