187 results on '"Fassihi H"'
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2. Bilateral cochlear implantation in a young patient with xeroderma pigmentosum (XP-D) and progressive sensorineural hearing loss—How to do it?
3. Photodiagnostic services in the UK and Republic of Ireland: a British Photodermatology Group Workshop Report
4. Xeroderma pigmentosum: increasing awareness of the variation in presenting clinical features in order to avoid diagnostic delay and improve prognosis: BG01
5. Paediatric solar urticaria: a case series: PD01
6. 5% Imiquimod (Aldara) clears lentigines in patients with xeroderma pigmentosum: BC01
7. Importance of genotype–phenotype correlation in xeroderma pigmentosum
8. Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia
9. A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria
10. Clinical and molecular analysis of 13 XP-A patients from the U.K.: genotype-phenotype correlation with prognostic importance: PD02
11. Hendle syndrome: a new entity comprising polymorphic light eruption with sun-triggered acute fatigue syndrome and solar catarrh, associated with recurrent severe sore throats in childhood followed by polychondritis with sacroileitis: PD07
12. Hydroa vacciniforme associated with persistent Epstein-Barr virus infection in four patients: clinicopathological studies and response to antiviral therapy: PD05
13. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions
14. Treatment of multiple facial basal cell carcinomas in a child with xeroderma pigmentosum complementation group C with Mohs micrographic surgery
15. Prevalence of chronic actinic dermatitis in an ethnically diverse UK population: PD02
16. Survival with 2 DNA repair disorders: P7021
17. Diagnosis of xeroderma pigmentosum complementation group C by immunohistochemistry: PD01
18. Three unusual presentations of xeroderma pigmentosum: XPF causing a Fanconi-type anaemia, XPC causing a malignant glioblastoma, and XPG presenting as a familial presenile dementia: PD03
19. Seriously deficient vitamin D levels in 25 U.K. patients with xeroderma pigmentosum: PD-3
20. Recurrent acute bilateral facial pain and swelling in a patient with severe recalcitrant pemphigus vulgaris
21. Xeroderma pigmentosum presenting without any abnormal sunburn reactions: first correlation between complementation group and acute effect of sunlight: PD-1
22. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa
23. Hereditary erythropoietic protoporphyria (EPP) presenting in old age with an unexpected genotype: lessons for the pathogenesis of symptoms in EPP: PD-3
24. Pemphigus vulgaris, alopecia areata and a mediastinal mass: a case of thymoma-associated autoimmunity: CPC-11
25. Germline selection shapes human mitochondrial DNA diversity
26. Unusual molecular findings in Kindler syndrome
27. Development and Application of Preimplantation Genetic Diagnosis for Inherited Skin Disorders in the UK
28. Preimplantation genetic diagnosis for inherited skin disorders in the U.K.: from bench to bedside to birth: O-7
29. Target proteins in inherited and acquired blistering skin disorders
30. Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome
31. Prenatal diagnosis for severe inherited skin disorders: 25 yearsʼ experience
32. Transient bullous dermolysis of the newborn in three generations
33. Thalidomide in the management of epidermolysis bullosa pruriginosa
34. Preimplantation genetic diagnosis in a family at risk for recurrence of skin fragility-ectodermal dysplasia syndrome: 445
35. An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene
36. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins
37. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa
38. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa
39. Twenty-five yearsʼ experience of prenatal diagnosis for severe inherited skin disorders
40. Case 1
41. Translational research in disorders of DNA repair: the challenges in the application of therapeutic discoveries to the treatment of human disease
42. A ‘handy’ indicator of infection
43. Mohs excision of multiple basal cell carcinomas in a child with xeroderma pigmentosum: The first case of its kind in the UK
44. Paediatric solar urticaria: a case series
45. Chronic actinic dermatitis: successful treatment with psoralen-ultraviolet A photochemotherapy
46. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in theUROSgene promoter sequence
47. Oral 5, Expanding choice for prenatal testing in couples at reproductive risk of Herlitz junctional epidermolysis bullosa
48. Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau–Siemens recessive dystrophic epidermolysis bullosa
49. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience
50. Thalidomide in the management of epidermolysis bullosa pruriginosa
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