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Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2204, doi. 10.1002/ajmg.a.36059
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- Publication type:
- Article
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 8, p. 618, doi. 10.1111/exd.12737
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- Publication type:
- Article
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
- Published in:
- Experimental Dermatology, 2013, v. 22, n. 4, p. 251, doi. 10.1111/exd.12110
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- Publication type:
- Article
Vorinostat, a histone deacetylase inhibitor, as a potential novel treatment for psoriasis.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 4, p. 567, doi. 10.1111/exd.14502
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- Publication type:
- Article
A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2277, doi. 10.1038/jid.2014.159
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- Publication type:
- Article
Semidominant Inheritance in Epidermolytic Ichthyosis.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 11, p. 2626, doi. 10.1038/jid.2013.193
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- Article
IGFBP7 as a Potential Therapeutic Target in Psoriasis.
- Published in:
- 2011
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- Publication type:
- Letter
Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 2, p. 378, doi. 10.1038/jid.2009.265
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- Publication type:
- Article