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    Research 181–210 of 1000+

    1. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome Steroids · 2019 · 1 citations
    2. Increased lactate dehydrogenase activity is dispensable in squamous carcinoma cells of origin Nature communications · 2019 · 36 citations
    3. Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits International journal of molecular sciences · 2024
    4. 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
    5. Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss Cureus · 2025
    6. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    7. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    8. Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response Molecular cytogenetics · 2014 · 5 citations
    9. Sequencing KRT71 as a candidate gene for hair shape variation in dromedary camels Kuwait Journal of Science · 2025
    10. Tissue Retinol‐Binding Protein 4 Expression and Its Genetic Variants (rs3758539) in Patients With Severe and Treatment‐Refractory Alopecia Areata: Association With Response to Baricitinib Dermatologic Therapy · 2026
    11. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    12. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    13. Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs PLoS ONE · 2024 · 2 citations
    14. Cell Proteomic Footprinting: Advances in the Quality of Cellular and Cell-Derived Cancer Vaccines Pharmaceutics · 2023 · 1 citations
    15. Female Pattern Hair Loss: An Overview with Focus on the Genetics Genes · 2023
    16. “Structural imprinting” of the cutaneous immune effector function Tissue Barriers · 2020 · 4 citations
    17. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    18. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    19. Genetic association of wool quality characteristics in United States Rambouillet sheep Frontiers in genetics · 2023 · 1 citations
    20. Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone–binding globulin and androgen receptor polymorphisms Fertility and sterility · 2010 · 15 citations
    21. Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of PubMed · 2025
    22. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report BMC dermatology · 2018 · 18 citations
    23. Localized alopecia and suppression of hypothalamic-pituitary-adrenal (HPA) axis in dogs following treatment with difluprednate 0.05% ophthalmic emulsion (Durezol®) BMC veterinary research · 2021 · 2 citations
    24. The Vitamin D Receptor Is a Wnt Effector that Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis PloS one · 2008 · 127 citations
    25. A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women Fertility and Sterility · 2005 · 8 citations
    26. Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat Frontiers in Genetics · 2021 · 1 citations
    27. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    28. Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS International Journal of Endocrinology · 2021 · 6 citations
    29. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    30. Integrated miRNA-mRNA analysis reveals regulatory pathways underlying the curly fleece trait in Chinese tan sheep BMC genomics · 2018 · 17 citations