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    Research 421–450 of 1000+

    1. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    2. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    3. GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride Neuropsychopharmacology · 2005 · 134 citations
    4. Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes Endocrinology · 2005 · 78 citations
    5. The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71 Mammalian genome · 2010 · 75 citations
    6. The RAIG Family Member, GPRC5D, Is Associated with Hard-Keratinized Structures 2004 · 64 citations
    7. Cylindroma as Tumor of Hair Follicle Origin Journal of Investigative Dermatology · 2006 · 57 citations
    8. Characterization of hairless (Hr) and FGF5genes provides insights into the molecular basis of hair loss in cetaceans BMC evolutionary biology · 2013 · 50 citations
    9. Lysophospholipid Mediators in Health and Disease Annual review of pathology · 2021 · 49 citations
    10. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    11. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients Journal of endocrinological investigation · 2021 · 31 citations
    12. A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia Journal of Investigative Dermatology · 2002 · 26 citations
    13. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    14. Evolution of Trichocyte Keratins Advances in experimental medicine and biology · 2018 · 18 citations
    15. 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
    16. Prevention of Male Late-Onset Hypogonadism by Natural Polyphenolic Antioxidants Nutrients · 2024 · 12 citations
    17. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    18. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    19. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    20. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    21. Ichthyosis hystrix Indian dermatology online journal · 2013 · 7 citations
    22. Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy PLoS ONE · 2016 · 6 citations
    23. Hedgehog Signaling in Papillary Fibroblasts Is Essential for Hair Follicle Regeneration during Wound Healing Journal of Investigative Dermatology · 2021 · 5 citations
    24. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa Journal of the American Academy of Dermatology · 2005 · 5 citations
    25. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    26. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    27. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    28. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    29. Apoptosis in Hair and Skin: A Review Journal of skin and stem cell · 2019 · 2 citations
    30. Reply Journal of Investigative Dermatology · 2000 · 2 citations