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48 results on '"Hannula-Jouppi K"'

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1. A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

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

4. Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma

5. A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

6. Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis

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

10. Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients

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

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

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

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

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

25. Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.

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

27. Skin Microbiota and Clinical Associations in Netherton Syndrome.

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

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

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

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

32. Immune cell phenotype and functional defects in Netherton syndrome.

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

34. Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

35. Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.

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

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

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

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

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

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

42. The mutation spectrum in RECQL4 diseases.

43. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.

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

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

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

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

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

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