9 results on '"Czermin B"'
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2. P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle
3. P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
4. P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?
5. P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family
6. P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome.
7. P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU.
8. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)
9. P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family
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