Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 9, p. 1290, doi. 10.1111/exd.14345
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- Publication type:
- Article
Works by Assaf, Sari
Results: 7
1
2
Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.
- Published in:
- British Journal of Dermatology, 2023, v. 189, n. 3, p. 302, doi. 10.1093/bjd/ljad167
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- Publication type:
- Article
3
A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 5, p. 773, doi. 10.1111/bjd.21766
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- Publication type:
- Article
4
Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence*.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 3, p. 392, doi. 10.1111/bjd.21674
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- Publication type:
- Article
5
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 2, p. 538, doi. 10.1111/pde.14529
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- Publication type:
- Article
6
Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2879, doi. 10.1002/ajmg.a.62924
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- Publication type:
- Article
7
Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09951-x
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- Publication type:
- Article