225 results on '"Steijlen PM"'
Search Results
2. Naevaide en congenitale afwijkingen
3. Clouston syndrome can mimic pachyonychia congenita
4. An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis
5. Restrictive dermopathy, report of 12 cases
6. Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
7. Mutations in the SOX18 transcription factor underlie recessive and dominant forms of lymphedema with hypotrichosis and telangiectasia.
8. Oral R115866 in the treatment of moderate to severe plaque‐type psoriasis
9. Vitiligo gekoebnerd door verbranding bij fototherapie
10. Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical
11. Topical treatment of Darier's disease with 13-cis-retinoic acid. A clinical and immunohistochemical study
12. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
13. Surgical excision versus Mohs' micrographic surgery for primary and recurrent basal-cell carcinoma of the face: a prospective randomised controlled trial with 5-years' follow-up.
14. Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption.
15. The perceived quality of life in adult patients with inherited ichthyosis: a qualitative interview study.
16. Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants.
17. Long-term remission of Hailey-Hailey disease by Er:YAG ablative laser therapy.
18. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
19. HRAS mosaicism in linear palmoplantar keratoderma.
20. Late-onset Morbus Hailey-Hailey.
21. Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
22. Effectiveness of a patient decision aid for patients with superficial basal cell carcinoma: A pre- and post-implementation study.
23. Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
24. STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
25. Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study.
26. Reorganising dermatology care: predictors of the substitution of secondary care with primary care.
27. Improving the diagnostic yield for filaggrin: Concealed mutations in the Dutch population.
28. Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.
29. Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
30. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.
31. Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome.
32. Randomized Trial of Four Treatment Approaches for Actinic Keratosis.
33. CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome.
34. New mutations and an updated database for the patched-1 (PTCH1) gene.
35. Vismodegib-resistant basal cell carcinomas in basal cell nevus syndrome: Clinical approach and genetic analysis.
36. Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease.
37. Five-Year Results of a Randomized Controlled Trial Comparing Effectiveness of Photodynamic Therapy, Topical Imiquimod, and Topical 5-Fluorouracil in Patients with Superficial Basal Cell Carcinoma.
38. Aesthetic outcome and complications of simple interrupted versus running subcuticular sutures in facial surgery: A randomized controlled trial.
39. Postzygotic mosaicism in basal cell naevus syndrome.
40. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
41. Three-Year Follow-Up Results of Photodynamic Therapy vs. Imiquimod vs. Fluorouracil for Treatment of Superficial Basal Cell Carcinoma: A Single-Blind, Noninferiority, Randomized Controlled Trial.
42. Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma.
43. Comment on Zhao et al. "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda".
44. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
45. A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.
46. Darier disease: discrete phenotype in a Sinhalese patient with Darier disease.
47. Photodynamic therapy vs. topical imiquimod for treatment of superficial basal cell carcinoma: a subgroup analysis within a noninferiority randomized controlled trial.
48. Correlation between histological findings on punch biopsy specimens and subsequent excision specimens in cutaneous squamous cell carcinoma.
49. Surgical excision versus Mohs' micrographic surgery for basal cell carcinoma of the face: A randomised clinical trial with 10 year follow-up.
50. Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene.
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