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1. High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma

2. Scanning transmission soft X-ray spectromicroscopy of mouse kidney and liver

3. DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia:is there a causal relationship?

4. Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

5. New insights into the genetic etiology of Alzheimer's disease and related dementias

8. Analysis of human brain tissue derived from DBS surgery

9. The Finnish genetic heritage in 2022:from diagnosis to translational research

10. INFRAFRONTIER quality principles in systemic phenotyping

11. Nhlrc2 is crucial during mouse gastrulation

12. NHLRC2 in embryonic development, neurodevelopment, and neurodegeneration:modelling a novel FINCA disease in mouse

13. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

14. Modeling rare human disorders in mice:the Finnish disease heritage

15. Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

16. Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland

17. TT2020 meeting report on the 16th transgenic technology meeting

19. Transmembrane prolyl 4-hydroxylase is a novel regulator of calcium signaling in astrocytes

20. Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease

21. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders

22. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

23. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

24. Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

25. Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children

30. Case report:a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

31. Mitochondrial hearing loss mutations among Finnish preterm and term-born infants

32. A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

33. An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

34. OP46 – 2969: Novel phenotypes of childhood encephalomyopathies with mitochondrial DNA depletion or deletions

36. Genetic causes of mitochondrial complex I deficiency in children

37. PP6.7 – 1623 Acute liver failure in patients with POLG1 mutations after valproate exposure and their prognosis after liver transplantation

38. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

40. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

43. NHLRC2 in embryonic development, neurodevelopment, and neurodegeneration:modelling a novel FINCA disease in mouse

44. Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children

45. Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

46. Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin function.

47. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

48. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

49. A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.

50. ciRS-7 and miR-7 regulate ischemia-induced neuronal death via glutamatergic signaling.

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