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    Research 721–750 of 1000+

    1. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    2. Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population Journal of Ovarian Research · 2014 · 10 citations
    3. A functional role of S100A4/non-muscle myosin IIA axis for pro-tumorigenic vascular functions in glioblastoma Cell Communication and Signaling · 2022 · 9 citations
    4. CD44 signaling in skin wound healing and regeneration Journal of Translational Medicine · 2025 · 8 citations
    5. Tp63-expressing adult epithelial stem cells cross lineages boundaries revealing latent hairy skin competence Nature Communications · 2020 · 8 citations
    6. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    7. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    8. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    9. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    10. Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis Springer eBooks · 2010 · 6 citations
    11. Monilethrix in three generations Indian Journal of Dermatology · 2008 · 6 citations
    12. Developmental and functional roles of androgen and interactive signals for external genitalia and erectile tissues Reproductive Medicine and Biology · 2024 · 5 citations
    13. Association between <i>VEGF</i> gene polymorphisms (11 sites) and polycystic ovary syndrome risk Bioscience Reports · 2020 · 5 citations
    14. Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models iScience · 2019 · 5 citations
    15. Ashwagandha root in the treatment of non-classical adrenal hyperplasia BMJ case reports · 2012 · 5 citations
    16. Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome Movement Disorders · 2011 · 5 citations
    17. Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies Cells · 2023 · 4 citations
    18. Alopecia areata: a comprehensive review of clinical, immunologic, and genetic perspectives Discover Immunity. · 2025 · 2 citations
    19. JAK inhibition decreases the autoimmune burden in Down syndrome eLife · 2024 · 2 citations
    20. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    21. Claves diagnósticas en displasias pilosas II 2021 · 2 citations
    22. Kelulut Honey Regulates Sex Steroid Receptors in a Polycystic Ovary Syndrome Rat Model International Journal of Molecular Sciences · 2022 · 1 citations
    23. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    24. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021 · 1 citations
    25. Constitutive activation of Stat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage Experimental Dermatology · 2015 · 1 citations
    26. Trichothiodystrophy 2008 · 1 citations
    27. Association of JAK 1 and JAK 2 gene polymorphism with alopecia areata risk: a case–control genetic study Egyptian Journal of Basic and Applied Sciences · 2025
    28. 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
    29. Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases Indian Dermatology Online Journal · 2025
    30. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025