Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Works matching DE "EMOPAMIL"
Results: 10
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Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC.
- Published in:
- Dermatology Online Journal, 2020, v. 26, n. 9, p. 1
- By:
- Publication type:
- Article
3
Sterol profiles are valuable biomarkers for phenotype expression of Conradi–Hünermann–Happle syndrome with EBP mutations.
- Published in:
- British Journal of Dermatology, 2018, v. 179, n. 5, p. 1186, doi. 10.1111/bjd.16823
- By:
- Publication type:
- Article
4
Single-cell analysis reveals the relevance of foot-and-mouth disease virus persistence to emopamil-binding protein gene expression in host cells.
- Published in:
- Archives of Virology, 2017, v. 162, n. 12, p. 3791, doi. 10.1007/s00705-017-3546-3
- By:
- Publication type:
- Article
5
RUDOLF HAPPLE AND THE DERMATOLOGY EPONYMS LINKED TO HIS NAME.
- Published in:
- Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 2, p. 143, doi. 10.7241/ourd.20122.34
- By:
- Publication type:
- Article
6
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
- Published in:
- Pediatric Radiology, 2015, v. 45, n. 7, p. 965, doi. 10.1007/s00247-014-3257-9
- By:
- Publication type:
- Article
7
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
- Published in:
- British Journal of Dermatology, 2015, v. 173, n. 5, p. 1316, doi. 10.1111/bjd.13948
- By:
- Publication type:
- Article
8
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
- Published in:
- British Journal of Dermatology, 2012, v. 166, n. 6, p. 1309, doi. 10.1111/j.1365-2133.2012.10808.x
- By:
- Publication type:
- Article
9
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
- Published in:
- British Journal of Dermatology, 2012, v. 166, n. 4, p. 830, doi. 10.1111/j.1365-2133.2011.10756.x
- By:
- Publication type:
- Article
10
MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane.
- Published in:
- 2017
- By:
- Publication type:
- Case Study