Search
for

    Sort by

    Research 541–570 of 1000+

    1. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    2. Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene Archives of Dermatological Research · 2005 · 20 citations
    3. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    4. A study on efficacy of oral zinc therapy for treatment of acrodermatitis enteropathica Nasza Dermatologia Online · 2013 · 5 citations
    5. Effect of Oral Minoxidil on Monilethrix International Journal of Trichology · 2025
    6. 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
    7. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
    8. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    9. Keratins: the hair shaft's backbone revealed Experimental Dermatology · 2015 · 17 citations
    10. 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
    11. Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells Cells · 2019 · 51 citations
    12. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    13. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    14. Dermatologic care of patients with differences of sex development International Journal of Women’s Dermatology · 2023 · 1 citations
    15. 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
    16. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    17. 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
    18. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome” European journal of pediatrics · 2002 · 5 citations
    19. 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
    20. The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999 · 166 citations
    21. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    22. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    23. Male infertility and genitourinary birth defects: there is more than meets the eye Fertility and Sterility · 2020 · 26 citations
    24. SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD The Pediatric Infectious Disease Journal · 1999 · 24 citations
    25. Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies Frontiers in Nutrition · 2025 · 3 citations
    26. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    27. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    28. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    29. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    30. 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