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    Research 211–240 of 1000+

    1. Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency BMJ case reports · 2019 · 3 citations
    2. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    3. Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience Frontiers in Oncology · 2023 · 1 citations
    4. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    5. Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil Research Square (Research Square) · 2022
    6. The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters Experimental Dermatology · 2016 · 6 citations
    7. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    8. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    9. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    10. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex Journal of Investigative Dermatology · 2017 · 44 citations
    11. Dynamic changes of genomic methylation profiles at different growth stages in Chinese Tan sheep 2021 · 35 citations
    12. Autofluorescence as a Signal to Sort Developing Glandular Trichomes by Flow Cytometry Frontiers in Plant Science · 2016 · 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. Developmental genetics of color pattern establishment in cats Nature communications · 2021 · 20 citations
    15. Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss EBioMedicine · 2020 · 19 citations
    16. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    17. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    18. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    19. Identification of functional circRNAs regulating ovarian follicle development in goats BMC Genomics · 2024 · 8 citations
    20. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    21. Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin JCRPE · 2020 · 2 citations
    22. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    23. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    24. Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield European Journal of Human Genetics · 2023 · 1 citations
    25. Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy 2022 · 1 citations
    26. MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants Journal of Investigative Dermatology · 2026
    27. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    28. Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding Genes · 2025
    29. Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent <i>HRURF</i> Variant Journal of Cosmetic Dermatology · 2025
    30. Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib Frontiers in Medicine · 2025