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    Research 391–420 of 1000+

    1. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    2. Evolution, classification, structure, and functional diversification of steroid 5α-reductase family in eukaryotes Heliyon · 2024 · 6 citations
    3. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    4. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    5. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    6. Wnt/β-Catenin Signaling Stabilizes Hemidesmosomes in Keratinocytes 2021 · 5 citations
    7. Nutritional Disorders of the Hair and Their Management 2020 · 5 citations
    8. Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease PloS one · 2019 · 5 citations
    9. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    10. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    11. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    12. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    13. HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice Brain and Behavior · 2022 · 3 citations
    14. Insights from Tandem Mass Tag (TMT) Proteomic Analysis on Protein Network Modification in Control of Yak Hair Follicle Cycle International Journal of Molecular Sciences · 2025 · 2 citations
    15. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    16. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    17. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    18. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    19. Co-occurrence of monilethrix and Type 1 diabetes mellitus Indian dermatology online journal · 2018 · 1 citations
    20. Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications Journal of Genome Biotechnology and Genetics · 2026
    21. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    22. Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis The Journal of Cell Biology · 2025
    23. Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases Indian Dermatology Online Journal · 2025
    24. Ernährungsstörungen des Haares und deren Management 2025
    25. Biomedical applications of organoids in genetic diseases Medical Review · 2024
    26. Atrichia with Papular Lesions: Dermoscopy to the Rescue Indian Journal of Dermatology · 2024
    27. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    28. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    29. The vitamin B5/coenzyme A axis: A target for immunomodulation? European Journal of Immunology · 2024
    30. Progress in Research and Prospects for Application of Precision Gene-Editing Technology Based on CRISPR–Cas9 in the Genetic Improvement of Sheep and Goats Agriculture · 2024