9 results on '"Schmitt, Eric"'
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2. Molecular defects in mitochondrial protein translation machinery
3. First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
4. A novel mitochondrial tRNA lysine variant, m.8358A>G, associated with exercise intolerance, muscle weakness, and fatigue
5. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
6. Benign or pathogenic: Using computer based algorithms for POLG mutation prediction
7. 131 Prevalence of autistic features in patients with definite diagnosis of mitochondrial disorder
8. 78 MPV17—Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
9. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
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