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    Research 30 of 818

    1. Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa The American Journal of Human Genetics · 1997 · 80 citations
    2. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    3. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    4. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    5. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    6. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    7. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    8. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    9. Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion Communications Biology · 2026
    10. Type XVII collagen coordinates proliferation in the interfollicular epidermis eLife · 2017 · 124 citations
    11. Case of non-Herlitz junctional epidermolysis bullosa with<i>COL17A1</i>mutation The Journal of Dermatology · 2015 · 1 citations
    12. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa Journal of the American Academy of Dermatology · 2005 · 5 citations
    13. 572 Defining chronic wound types in recessive dystrophic epidermolysis bullosa patients for clinical outcome assessment Journal of Investigative Dermatology · 2018 · 2 citations
    14. Localized variant of junctional epidermolysis bullosa with R795X mutation Dermatology Reports · 2025
    15. 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells Journal of Investigative Dermatology · 2019 · 1 citations
    16. 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing Journal of Investigative Dermatology · 2024
    17. A Neonate with Blisters Pediatrics in Review · 2020
    18. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    19. 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa Journal of Investigative Dermatology · 2019
    20. KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA Media Dermato Venereologica Indonesiana · 2023
    21. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    22. Australasian Society for Dermatology Research Meeting, May 2006 Journal of Investigative Dermatology · 2007
    23. Somatic mutations distinguish melanocyte subpopulations in human skin bioRxiv (Cold Spring Harbor Laboratory) · 2026
    24. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    25. Restoration of Hair Luster via Novel Biomarker COL7A1 by Minoxidil, Caffeine, and Biotin Current Issues in Molecular Biology · 2025
    26. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    27. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    28. Genome Array on Differentially Expressed Genes of Skin Tissue in Cashmere Goat at Early Anagen of Cashmere Growth Cycle Using DNA Microarray Journal of Integrative Agriculture · 2014 · 4 citations
    29. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    30. Comprehensive Administrative and Engineering Strategies for Radiation Protection and Occupational Health Safety Clinical and Medical Engineering Live · 2025