Found: 6
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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2249, doi. 10.1038/jid.2011.186
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- Publication type:
- Article
Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 6, p. 491, doi. 10.1111/j.1600-0625.2010.01243.x
- By:
- Publication type:
- Article
Functional Analysis of FLT4 Mutations Associated with Nonne–Milroy Lymphedema.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 588, doi. 10.1038/sj.jid.5700592
- By:
- Publication type:
- Article
A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation.
- Published in:
- 2004
- By:
- Publication type:
- Letter