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    Research 301–330 of 1000+

    1. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    2. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    3. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets Arquivos Brasileiros de Endocrinologia & Metabologia · 2008 · 24 citations
    4. Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma JAAD case reports · 2017 · 23 citations
    5. Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates General and Comparative Endocrinology · 2020 · 21 citations
    6. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    7. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations
    8. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    9. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    10. Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle Scientific Reports · 2011 · 9 citations
    11. The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron. Blood · 2007 · 9 citations
    12. Alopecia: Association with Resistance to Thyroid Hormones 2009 · 8 citations
    13. Disease causing homozygous variants in the human hairless gene International Journal of Dermatology · 2015 · 7 citations
    14. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    15. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
    16. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    17. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    18. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    19. LAMELLAR ICHTHYOSIS: ONE CASE REPORT International Journal of Medical Reviews and Case Reports · 2019 · 1 citations
    20. Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population Skin Health and Disease · 2025
    21. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    22. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    23. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    24. Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review Pediatric Dermatology · 2019
    25. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    26. Molecular genetics of androgen insensitivity Adolescent and pediatric gynecology · 1995
    27. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    28. Practical Guidelines for Evaluation of Loose Anagen Hair Syndrome Archives of Dermatology · 2009 · 46 citations
    29. Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations The American Journal of Surgical Pathology · 2021 · 4 citations
    30. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations