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48 results on '"Katariina Hannula-Jouppi"'

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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. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

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

4. Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

5. Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

6. Skin Microbiota and Clinical Associations in Netherton Syndrome

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

8. Immune cell phenotype and functional defects in Netherton syndrome

10. Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

11. Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight.

12. Genetic susceptibility to non-necrotizing erysipelas/cellulitis.

13. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.

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

15. Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

16. Skin Microbiota and Clinical Associations in Netherton Syndrome

17. Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients

18. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

19. The Role of Negative Pressure Wound Therapy (NPWT) in the Management of Vasculitic Wounds: Case Series of Eight Patients

20. Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

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

23. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

24. Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

25. Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

26. Characterization of novel TMEM173 mutation with additive IFIH1 risk allele

28. IgE allergen component-based profiling and atopic manifestations in patients with Netherton syndrome

29. 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1

30. Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7

31. Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children

32. Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR

33. Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree ofH19Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies

34. The mutation spectrum in RECQL4 diseases

35. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility

36. Global analysis of uniparental disomy using high density genotyping arrays

37. A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32

38. 124 Desmoplakin mutation in neonatal erythroderma

39. Cyclosporine treatment in severe gestational pemphigoid

40. Altered Methylation of IGF2 Locus 20 Years after Preterm Birth at Very Low Birth Weight

41. Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

42. Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

43. Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with SRS Phenotype Severity and Genital and Skeletal Anomalies

44. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

45. Fine mapping of the 2p11 dyslexia locus and exclusion of TACR1 as a candidate gene

46. A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

47. The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia

48. Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.

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