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    Research 391–420 of 1000+

    1. The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin International journal of molecular sciences · 2023 · 1 citations
    2. Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome The Journal of Clinical Endocrinology & Metabolism · 2025
    3. Comprehensive Management of Polycystic Ovary Syndrome: The Role of Metformin in Addressing Metabolic and Endocrine Dysregulation Journal of Education Health and Sport · 2025
    4. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    5. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    6. A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter JAAD case reports · 2023
    7. Cutaneous and Oral Mucosal Lesions in Cri-du-chat Syndrome International journal of biomedical engineering and clinical science · 2017
    8. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    9. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    10. Pathophysiology of the Behçet's Disease Pathology Research International · 2011 · 34 citations
    11. Immunodeficiency Disorders Pediatrics in review · 2019 · 21 citations
    12. Cephalalgia Alopecia or Nummular Headache With Trophic Changes? A New Case With Prolonged Follow‐Up Headache The Journal of Head and Face Pain · 2013 · 19 citations
    13. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    14. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    15. Aging skin and non-surgical procedures: a basic science overview Plastic and Aesthetic Research · 2020 · 3 citations
    16. Clinical Features and Treatment Options of Vogt-Koyanagi-Harada Disease IntechOpen eBooks · 2025 · 2 citations
    17. The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients Frontiers in Immunology · 2025
    18. 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
    19. TCDD-induced activation of aryl hydrocarbon receptor regulates the skin stem cell population Medical hypotheses · 2015 · 9 citations
    20. Viewpoint 4 Experimental Dermatology · 2008 · 1 citations
    21. Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy Experimental Eye Research · 2025
    22. Beyond Wavy Hairs American Journal Of Pathology · 2008 · 160 citations
    23. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome European Journal of Pediatrics · 2013 · 15 citations
    24. UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia Proceedings of the National Academy of Sciences · 2025
    25. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
    26. Current Guidelines for Diagnosing PCOS Diagnostics · 2023 · 254 citations
    27. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    28. Criteria for Diagnosis of Polycystic Ovary Syndrome during Adolescence: Literature Review Diagnostics · 2022 · 42 citations
    29. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    30. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations