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    Research 331–360 of 1000+

    1. Molecular Genetics of Human Hair Diseases 2008
    2. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    3. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    4. Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene Journal of Dermatological Science · 1994 · 6 citations
    5. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity Orphanet journal of rare diseases · 2021 · 11 citations
    6. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    7. Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study Journal of Thoracic Disease · 2023
    8. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    9. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    10. A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report Journal of Comprehensive Pediatrics · 2022
    11. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
    12. Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes Journal of Investigative Dermatology · 2017 · 77 citations
    13. Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened Clinical cancer research · 2011 · 63 citations
    14. Collodion baby to bathing suit ichthyosis: A 6-year follow-up Indian dermatology online journal · 2022
    15. HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond Endocrinology · 2019 · 30 citations
    16. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle 2015 · 15 citations
    17. Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency BMJ case reports · 2013 · 5 citations
    18. Biomedical applications of organoids in genetic diseases Medical Review · 2024
    19. Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs Frontiers in Genetics · 2023
    20. WNT10A promotes an invasive and self-renewing phenotype in esophageal squamous cell carcinoma Carcinogenesis · 2015 · 55 citations
    21. Ehlers-Danlos syndrome: From bedside to bench Frontiers research topics · 2024
    22. The molecular basis of human keratin disorders Human Genetics · 2009 · 79 citations
    23. Molecular determinants for the chemical activation of the warmth-sensitive TRPV3 channel by the natural monoterpenoid carvacrol Journal of Biological Chemistry · 2022 · 24 citations
    24. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    25. Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin JCRPE · 2020 · 2 citations
    26. The Telomerase Reverse Transcriptase (TERT) Gene Molecular Characterization in Sheep and the Association of Its Variation with Wool Traits Animals · 2026
    27. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    28. Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype BMC genomics · 2024
    29. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    30. Nutritional Disorders of the Hair and Their Management 2020 · 5 citations