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25 results on '"Reetta Hinttala"'

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1. TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease

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

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

4. NHLRC2 expression is increased in idiopathic pulmonary fibrosis

5. Analysis of human brain tissue derived from DBS surgery

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

7. Recontacting biobank participants to collect lifestyle, behavioural and cognitive information via online questionnaires: lessons from a pilot study within FinnGen

8. The Finnish genetic heritage in 2022 – from diagnosis to translational research

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

10. Sleep apnoea is a risk factor for severe COVID-19

11. Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

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

13. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.

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

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

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

17. INFRAFRONTIER quality principles in systemic phenotyping

18. EOSC-Life: Building a digital space for the life sciences - D1.2 EOSC repository deployment for project demonstrators

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

20. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) : characterisation of a novel cerebropulmonary disease

21. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

22. Progressive external ophthalmoplegia in Southwestern Finland: a clinical and genetic study

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

24. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

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