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1. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 International journal of molecular sciences · 2024
2. 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC) Journal of Investigative Dermatology · 2019
3. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
4. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
5. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
6. The Role of Nrf2 in Hearing Loss Frontiers in Pharmacology · 2021 · 17 citations
7. Regeneration of a bioengineered 3D integumentary organ system from iPS cells Nature protocols · 2019 · 12 citations
8. Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity 2020 · 3 citations
9. Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in <i> KRT 5 </i> Journal of Dermatology · 2019 · 3 citations
10. Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type Journal of the American Academy of Dermatology · 2012 · 2 citations

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