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    Research 241–270 of 1000+

    1. 301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa Journal of Investigative Dermatology · 2022
    2. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    3. Persistent Hypoglycemia and Macrosomia in a Newborn Pediatrics in Review · 2026
    4. Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant Archives of Pathology & Laboratory Medicine · 2004 · 9 citations
    5. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations Clinical and experimental dermatology · 2013 · 11 citations
    6. Index of Suspicion Pediatrics in Review · 2007 · 2 citations
    7. Cumulative Index Clinics in Plastic Surgery · 2005
    8. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    9. Diseases of Periocular Hair Survey of Ophthalmology · 2011 · 7 citations
    10. Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus. PubMed · 2017 · 4 citations
    11. Dermatology, ed. 2 Journal of The American Academy of Dermatology · 1985 · 3 citations
    12. Hair Manifestations of Systemic Disease Current Problems in Pediatric and Adolescent Health Care · 2012 · 10 citations
    13. Abstracts Medizinische Genetik · 2019 · 2 citations
    14. Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis Clinics in Dermatology · 2015 · 10 citations
    15. Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome Pediatric dermatology · 2007 · 42 citations
    16. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    17. Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control Journal of Clinical Immunology · 2024 · 5 citations
    18. Cutaneous Mastocytosis Associated With Congenital Alopecia The American Journal of Dermatopathology · 2012 · 3 citations
    19. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    20. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    21. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    22. Obesity and the Polycystic Ovary Syndrome Medical Clinics of North America · 2007 · 28 citations
    23. Limb tourniquet syndrome - A cautionary tale Injury Extra · 2007 · 3 citations
    24. A study on the clinical, biochemical and hormonal profile of polycystic ovary syndrome patients attending tertiary care hospital International journal of reproduction, contraception, obstetrics and gynecology · 2017 · 4 citations
    25. The diagnosis of polycystic ovary syndrome in adolescents American Journal of Obstetrics and Gynecology · 2010 · 212 citations
    26. Congenital hypotrichosis due to short anagen British Journal of Dermatology · 2000 · 42 citations
    27. Polycystic Ovarian Syndrome: Long-Term Health Consequences Seminars in Reproductive Medicine · 2017 · 34 citations
    28. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    29. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    30. 5 Alpha - Reductase and Metabolic Syndrome in PCOS Patients International Journal of Science and Research (IJSR) · 2021