Found: 13
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Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 9, p. 1512, doi. 10.1111/jdv.13653
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- Publication type:
- Article
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c).
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 8, p. 1415, doi. 10.1111/jdv.13259
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- Publication type:
- Article
Functional and physiological resistance of crayfish to amphibian toxins: tetrodotoxin resistance in the white river crayfish ( Procambarus acutus).
- Published in:
- Canadian Journal of Zoology, 2014, v. 92, n. 11, p. 939, doi. 10.1139/cjz-2014-0128
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- Publication type:
- Article
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.
- Published in:
- British Journal of Dermatology, 2019, v. 181, n. 3, p. 618, doi. 10.1111/bjd.17839
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- Publication type:
- Article
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.
- Published in:
- British Journal of Dermatology, 2019, v. 180, n. 5, p. 1250, doi. 10.1111/bjd.17442
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- Publication type:
- Article
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 5, p. 1345, doi. 10.1111/bjd.14973
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- Publication type:
- Article
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
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- British Journal of Dermatology, 2017, v. 176, n. 1, p. 270, doi. 10.1111/bjd.14914
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- Publication type:
- Article
Mutations in GJB6 causing phenotype resembling pachyonychia congenita.
- Published in:
- British Journal of Dermatology, 2015, v. 172, n. 5, p. 1447, doi. 10.1111/bjd.13520
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- Publication type:
- Article
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
- Published in:
- British Journal of Dermatology, 2014, v. 171, n. 2, p. 343, doi. 10.1111/bjd.12958
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- Publication type:
- Article
Heterozygous frameshift mutation in keratin 5 in a family with Galli- Galli disease.
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- British Journal of Dermatology, 2014, v. 170, n. 6, p. 1362, doi. 10.1111/bjd.12813
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- Publication type:
- Article
Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair.
- Published in:
- British Journal of Dermatology, 2012, v. 166, n. 4, p. 894, doi. 10.1111/j.1365-2133.2011.10664.x
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- Publication type:
- Article
α1-Antitrypsin deficiency panniculitis (phenotype PiZZ) precipitated postpartum and successfully treated with dapsone.
- Published in:
- 2004
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- Publication type:
- Letter
A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
- Published in:
- British Journal of Dermatology, 2000, v. 143, n. 3, p. 621, doi. 10.1111/j.1365-2133.2000.03722.x
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- Publication type:
- Article