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    Research 211–240 of 1000+

    1. Junctional Epidermolysis Bullosa, Generalized Intermediate Type 2015
    2. Converging physiological roles of the anthrax toxin receptors F1000Research · 2019 · 15 citations
    3. The Wound Reporting in Animal and Human Preclinical Studies (WRAHPS) Guidelines Wound Repair and Regeneration · 2024 · 11 citations
    4. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    5. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    6. Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency JCEM Case Reports · 2025
    7. PCSK9: From Nature’s Loss to Patient’s Gain Circulation · 2024
    8. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    9. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    10. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    11. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    12. Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes ˜The œAmerican journal of pathology · 2010 · 35 citations
    13. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    14. Collodion baby to bathing suit ichthyosis: A 6-year follow-up Indian dermatology online journal · 2022
    15. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    16. Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes 2021 · 5 citations
    17. Evolution of long scalp hair in humans British Journal of Dermatology · 2025
    18. Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits Veterinary Sciences · 2024
    19. The molecular basis of human keratin disorders Human Genetics · 2009 · 79 citations
    20. Clinical biochemistry of dihydrotestosterone Annals of Clinical Biochemistry · 2013 · 50 citations
    21. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    22. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    23. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    24. The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier Frontiers in Immunology · 2021 · 23 citations
    25. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    26. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    27. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    28. Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage Reproductive biomedicine online · 2017 · 3 citations
    29. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    30. Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review Genes · 2023 · 1 citations