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    Research 481–510 of 1000+

    1. HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice Brain and Behavior · 2022 · 3 citations
    2. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    3. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    4. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    5. Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review Clinical Medicine Insights Case Reports · 2025
    6. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    7. Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images Clinical Case Reports · 2025
    8. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    9. Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes Case reports in dermatological medicine · 2021 · 2 citations
    10. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    11. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation Journal of dermatological science · 2017 · 5 citations
    12. Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review Pediatric Dermatology · 2025
    13. Supplementary material from "Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair" 2017
    14. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    15. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    16. Uncombable hair improved by biotin JEADV Clinical Practice · 2023
    17. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature International journal of immunopathology and pharmacology · 2015 · 6 citations
    18. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    19. Werner's syndrome: incidental finding during pregnancy BMJ case reports · 2013 · 1 citations
    20. Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development Proceedings of the National Academy of Sciences of the United States of America · 2003 · 93 citations
    21. Erythromelanosis follicularis faciei in women Journal of the American Academy of Dermatology · 1995 · 25 citations
    22. Focused Review on Metal Nanoparticles in Hair Regeneration and Alopecia: Insights into Mechanisms, Assessment Techniques, Toxicity, Regulatory and Intellectual Property Perspectives Journal of Cluster Science · 2025
    23. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    24. MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2 Journal of the Endocrine Society · 2025
    25. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    26. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    27. Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock BMC Pediatrics · 2025
    28. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    29. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    30. GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT Journal of the American Geriatrics Society · 2011 · 1 citations