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    Research 541–570 of 1000+

    1. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    2. Keratins: the hair shaft's backbone revealed Experimental Dermatology · 2015 · 17 citations
    3. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    4. Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells · 2019 · 51 citations
    5. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    6. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    7. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    8. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    9. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    10. Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan Pakistan Journal of Zoology · 2020
    11. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome” European journal of pediatrics · 2002 · 5 citations
    12. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    13. The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999 · 166 citations
    14. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    15. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    16. Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride Nature Communications · 2020 · 30 citations
    17. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    18. SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD The Pediatric Infectious Disease Journal · 1999 · 24 citations
    19. Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies Frontiers in Nutrition · 2025 · 3 citations
    20. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    21. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    22. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    23. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    24. 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
    25. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    26. 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
    27. Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female Oral Surgery Oral Medicine Oral Pathology and Oral Radiology · 2024
    28. Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review Toxins · 2021 · 58 citations
    29. Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant Genes · 2025
    30. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations