Found: 9
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Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Acral peeling in Nagashima type palmo‐plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 2, p. 214, doi. 10.1111/exd.14444
- By:
- Publication type:
- Article
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 522, doi. 10.1111/cge.14032
- By:
- Publication type:
- Article
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 353, doi. 10.1111/cge.13817
- By:
- Publication type:
- Article
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 3, p. 379, doi. 10.1111/1346-8138.16268
- By:
- Publication type:
- Article
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 5, p. 518, doi. 10.1001/jamadermatol.2024.0152
- By:
- Publication type:
- Article
A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement.
- Published in:
- 2019
- By:
- Publication type:
- journal article