341 results on '"Tadini, G."'
Search Results
2. Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa
3. Assessing the Quality of Life of patients with Epidermolysis Bullosa (EB): Development of a patient-centered questionnaire
4. WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)
5. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
6. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia
7. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
8. Role of Adult Faeces in the Nutrition of Larvae of Asellus aquaticus (Isopoda)
9. Patient-generated evidence in Epidermolysis Bullosa: Development of a questionnaire to assess the Quality of Life
10. Oral manifestations in a boy with X-linked reticulate pigmentary disorder
11. Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study
12. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
13. Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype
14. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
15. Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation:genotype-phenotype correlation and in silico modeling analysis
16. Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis
17. Tuberculosis cutis miliaris disseminata due to multidrug-resistantMycobacterium tuberculosis in AIDS patients
18. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
19. Clinical and molecular features of harlequin ichthyosis: O-13
20. Intracellular degradation of β4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia
21. Supplement II: Abstracts of the international symposium on Skin Carcinogenesis in man and in experimental models. Heidelberg, 29–31 October 1991 (pp S61–S88)
22. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14
23. Hypopigmented/achromic disorders
24. Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient
25. Phakomatosis Pigmentovascularis: A New Case with Renal Angiomas and Some Considerations About the Classification
26. Unusual hyperpigmentation developing in congenital reticular ichthyosiform erythroderma (ichthyosis variegata)
27. Localized peeling skin syndrome: case report with ultrastructural study
28. Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis
29. Aberrant breast tissue in complete androgen insensitivity syndrome
30. A fast algorithm to compress grey level images
31. DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis
32. WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)
33. 582 A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS)
34. Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia
35. Hutchinson-Gilford progeria
36. Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa
37. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2
38. Arachidonic acid and LTB4 enhance aggregation of psoriatic peripheral blood mononuclear leukocytes in vitro
39. Circadian rhythm of the in vivo migration of neutrophils in psoriatic patients
40. Nevoid follicular mucinosis: a new type of hair follicle nevus
41. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations
42. Sindrome di LEOPARD: caratterizzazione di due famiglie italiane con mutazioni ricorrenti p.T468M/P nel gene PTPN11
43. Linee guida. Diagnosi delle epidermolisi bollose ereditarie
44. Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa
45. A fast algorithm to compress grey level images
46. Loeys- Dietz Sindrome and Vascular Ehlers- Danlos Sindrome: differential diagnosis by clinical and molecular approaches
47. Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects
48. The Italian Registry of Hereditary Epidermolysis Bullosa
49. A novel INDEL mutation in the EDA gene resulting in a distinct X‐ linked hypohidrotic ectodermal dysplasia phenotype in an Italian family
50. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
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