Found: 9
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The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.
- Published in:
- Cutis, 2022, v. 110, n. 1, p. E5, doi. 10.12788/cutis.0571
- By:
- Publication type:
- Article
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal γδ T cells.
- Published in:
- Nature Genetics, 2008, v. 40, n. 5, p. 656, doi. 10.1038/ng.108
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- Publication type:
- Article
Capillary Malformation-Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management.
- Published in:
- Pediatric Dermatology, 2013, v. 30, n. 4, p. 409, doi. 10.1111/pde.12112
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- Publication type:
- Article
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 6, p. 1540, doi. 10.1038/jid.2014.485
- By:
- Publication type:
- Article
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 827, doi. 10.1038/jid.2012.379
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- Publication type:
- Article
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 2, p. 348, doi. 10.1093/hmg/ddv481
- By:
- Publication type:
- Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
- Published in:
- Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
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- Publication type:
- Article