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    Research 391–420 of 1000+

    1. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    2. Converging physiological roles of the anthrax toxin receptors F1000Research · 2019 · 15 citations
    3. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    4. Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. DOAJ (DOAJ: Directory of Open Access Journals) · 2018 · 11 citations
    5. Gene-knockout mice with abnormal epidermal and hair follicular development Journal of dermatological science · 1998 · 11 citations
    6. Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention Photodermatology Photoimmunology & Photomedicine · 2020 · 6 citations
    7. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    8. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    9. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    10. Co-occurrence of monilethrix and Type 1 diabetes mellitus Indian dermatology online journal · 2018 · 1 citations
    11. Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality Journal of Investigative Dermatology · 2025
    12. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    13. Navaratnas in Dermatology Indian Dermatology Online Journal · 2024
    14. Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review Biomedicines · 2024
    15. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    16. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    17. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    18. Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives International Journal of Molecular Sciences · 2024 · 9 citations
    19. Quantification of the Vitamin D Receptor−Coregulator Interaction Biochemistry · 2009 · 62 citations
    20. Biological Function of Long Non-coding RNA (LncRNA) Xist Frontiers in Cell and Developmental Biology · 2021 · 247 citations
    21. The X Factor in Immunity: Sex Differences Shaped by the X Chromosome Immunological Reviews · 2026
    22. Delphi Consensus on Attenuated Androgen Use for Long‐Term Prophylaxis in Hereditary Angioedema: AURA Project Clinical and Translational Allergy · 2025
    23. SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder Cell · 2010 · 260 citations
    24. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    25. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    26. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    27. Sebaceous adenitis in Swedish dogs, a retrospective study of 104 cases Acta veterinaria Scandinavica · 2008 · 22 citations
    28. The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China Clinical Cosmetic and Investigational Dermatology · 2021 · 10 citations
    29. Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds International journal of molecular sciences · 2023 · 8 citations
    30. Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases Indian Dermatology Online Journal · 2025