15 results on '"Uusimaa J"'
Search Results
2. Crystal structure of NHL repeat containing domain of human NHLRC2
3. Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia
4. A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss
5. Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, Myelodysplastic Syndrome and Neurological Symptoms
6. OP46 – 2969: Novel phenotypes of childhood encephalomyopathies with mitochondrial DNA depletion or deletions
7. Association Between Epilepsy and Psychotic Disorders in the Northern Finland Birth Cohort 1966 Study
8. PP6.7 – 1623 Acute liver failure in patients with POLG1 mutations after valproate exposure and their prognosis after liver transplantation
9. O20 – 1660 Leigh syndrome: a multicenter study of natural history
10. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
11. P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease
12. POLG1 manifestations in childhood
13. Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
14. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency
15. L-3-Hydroxyacyl-CoA dehydrogenase deficiency: Two cases with pigmentary retinopathy
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