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Understanding the socioeconomic costs of dystrophic epidermolysis bullosa in Europe: a costing and health-related quality of life study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Otological complications in inversa type recessive dystrophic epidermolysis bullosa.
- Published in:
- Clinical & Experimental Dermatology, 2022, v. 47, n. 4, p. 717, doi. 10.1111/ced.15029
- By:
- Publication type:
- Article
PLACK syndrome: the penny dropped.
- Published in:
- Clinical & Experimental Dermatology, 2020, v. 45, n. 8, p. 1091, doi. 10.1111/ced.14417
- By:
- Publication type:
- Article
Beta blockers for infantile haemangiomas: where should we go from here?
- Published in:
- British Journal of Dermatology, 2019, v. 180, n. 3, p. 450, doi. 10.1111/bjd.17574
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- Publication type:
- Article
Itch and scratch: could pain be the catch?
- Published in:
- British Journal of Dermatology, 2018, v. 179, n. 5, p. 1029, doi. 10.1111/bjd.17119
- By:
- Publication type:
- Article
Focal dermal hypoplasia: inheritance from father to daughter.
- Published in:
- Clinical & Experimental Dermatology, 2017, v. 42, n. 4, p. 457, doi. 10.1111/ced.13047
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- Publication type:
- Article
Pain, purpura and curly hairs.
- Published in:
- Clinical & Experimental Dermatology, 2013, v. 38, n. 8, p. 940, doi. 10.1111/ced.12118
- By:
- Publication type:
- Article
Homozygous variegate porphyria presenting with developmental and language delay in childhood.
- Published in:
- Clinical & Experimental Dermatology, 2013, v. 38, n. 7, p. 737, doi. 10.1111/ced.12071
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- Publication type:
- Article
A pyrexial unwell child with a papular eruption.
- Published in:
- Clinical & Experimental Dermatology, 2012, v. 37, n. 7, p. 811, doi. 10.1111/j.1365-2230.2011.04294.x
- By:
- Publication type:
- Article
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
- Published in:
- Clinical & Experimental Dermatology, 2012, v. 37, n. 6, p. 631, doi. 10.1111/j.1365-2230.2011.04288.x
- By:
- Publication type:
- Article
The challenges of meeting nutritional requirements in children and adults with epidermolysis bullosa: proceedings of a multidisciplinary team study day.
- Published in:
- Clinical & Experimental Dermatology, 2011, v. 36, n. 6, p. 579, doi. 10.1111/j.1365-2230.2011.04091.x
- By:
- Publication type:
- Article
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa A. Pérez et al. BP in a patient with suspected nHJEB.
- Published in:
- Clinical & Experimental Dermatology, 2010, v. 35, n. 8, p. 881, doi. 10.1111/j.1365-2230.2010.03828.x
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- Publication type:
- Article
Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
- Published in:
- British Journal of Dermatology, 2010, v. 163, n. 3, p. 624, doi. 10.1111/j.1365-2133.2010.09859.x
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- Publication type:
- Article
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation.
- Published in:
- British Journal of Dermatology, 2010, v. 162, n. 1, p. 201, doi. 10.1111/j.1365-2133.2009.09496.x
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- Publication type:
- Article
Epidermolysis bullosa pruriginosa in association with lichen planopilaris.
- Published in:
- Clinical & Experimental Dermatology, 2009, v. 34, n. 8, p. e825, doi. 10.1111/j.1365-2230.2009.03568.x
- By:
- Publication type:
- Article
Maxillary alveolar process fracture complicating intubation in a patient with epidermolysis bullosa.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Autosomal dominant junctional epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 5, p. 1094, doi. 10.1111/j.1365-2133.2008.08977.x
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- Publication type:
- Article
PORCN gene mutations and the protean nature of focal dermal hypoplasia.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 5, p. 1103, doi. 10.1111/j.1365-2133.2009.09048.x
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- Publication type:
- Article
Gastrointestinal complications of epidermolysis bullosa in children.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 6, p. 1308, doi. 10.1111/j.1365-2133.2008.08507.x
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- Publication type:
- Article
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 3, p. 611, doi. 10.1111/j.1365-2133.2007.08277.x
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- Publication type:
- Article
Generalized pustular eruption in a 5-year-old boy.
- Published in:
- Clinical & Experimental Dermatology, 2008, v. 33, n. 1, p. 79, doi. 10.1111/j.1365-2230.2007.02611.x
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- Publication type:
- Article
Bone mineralization in children with epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2006, v. 154, n. 5, p. 959, doi. 10.1111/j.1365-2133.2005.07123.x
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- Publication type:
- Article
An unusual patient with Rothmund–Thomson syndrome, porokeratosis and bilateral iris dysgenesis.
- Published in:
- Clinical & Experimental Dermatology, 2006, v. 31, n. 3, p. 401, doi. 10.1111/j.1365-2230.2006.02080.x
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- Publication type:
- Article
Target proteins in inherited and acquired blistering skin disorders.
- Published in:
- Clinical & Experimental Dermatology, 2006, v. 31, n. 2, p. 252, doi. 10.1111/j.1365-2230.2006.02065.x
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- Publication type:
- Article
Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.
- Published in:
- British Journal of Dermatology, 2006, v. 154, n. 1, p. 106, doi. 10.1111/j.1365-2133.2005.07012.x
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- Publication type:
- Article
Thalidomide in the management of epidermolysis bullosa pruriginosa.
- Published in:
- British Journal of Dermatology, 2005, v. 152, n. 6, p. 1332, doi. 10.1111/j.1365-2133.2005.06492.x
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- Publication type:
- Article
Multiple dermatofibromas associated with lupus profundus.
- Published in:
- Clinical & Experimental Dermatology, 2005, v. 30, n. 2, p. 128, doi. 10.1111/j.1365-2230.2004.01663.x
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- Publication type:
- Article
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.
- Published in:
- Clinical & Experimental Dermatology, 2005, v. 30, n. 2, p. 180, doi. 10.1111/j.1365-2230.2004.01704.x
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- Publication type:
- Article
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
- Published in:
- Clinical & Experimental Dermatology, 2005, v. 30, n. 1, p. 71, doi. 10.1111/j.1365-2230.2004.01660.x
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- Publication type:
- Article
ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene.
- Published in:
- Clinical & Experimental Dermatology, 2004, v. 29, n. 6, p. 669, doi. 10.1111/j.1365-2230.2004.01643.x
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- Publication type:
- Article
Paediatric Dermatology Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2003, v. 149, n. 4, p. 810, doi. 10.1046/j.1365-2133.2003.05315.x
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- Publication type:
- Article
Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
- Published in:
- Clinical & Experimental Dermatology, 2001, v. 26, n. 1, p. 93, doi. 10.1046/j.1365-2230.2001.0801
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- Publication type:
- Article
Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.
- Published in:
- Clinical & Experimental Dermatology, 2001, v. 26, n. 1, p. 97, doi. 10.1046/j.1365-2230.2001.00769.x
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- Publication type:
- Article
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome.
- Published in:
- Clinical & Experimental Dermatology, 2000, v. 25, n. 5, p. 441, doi. 10.1046/j.1365-2230.2000.00683.x
- By:
- Publication type:
- Article
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 1999, v. 8, n. 1, p. 22, doi. 10.1111/j.1600-0625.1999.tb00344.x
- By:
- Publication type:
- Article
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
- Published in:
- British Journal of Dermatology, 1997, v. 137, n. 6, p. 898, doi. 10.1111/j.1365-2133.1997.tb01549.x
- By:
- Publication type:
- Article