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    Research 421–450 of 1000+

    1. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis American journal of human genetics · 2019 · 53 citations
    2. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    3. Disorders of hair Journal of the American Academy of Dermatology · 1988 · 6 citations
    4. Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes All Life · 2024 · 3 citations
    5. Integrating whole-genome re-sequencing and transcriptome data to reveal the molecular mechanism of TBX5 gene regulating feathered feet in Guangxi native chickens Poultry Science · 2025 · 2 citations
    6. Cardiac biopsy in myocarditis The Lancet · 1990 · 2 citations
    7. Enhanced Insights into Frontal Fibrosing Alopecia: Advancements in Pathogenesis Understanding and Management Strategies Dermatology and Therapy · 2024 · 1 citations
    8. Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix Jornal Brasileiro de Patologia e Medicina Laboratorial · 2018 · 1 citations
    9. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    10. Structural and epistatic regulatory variants cause hallmark white spotting in cattle Science Advances · 2025 · 1 citations
    11. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    12. <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia American Journal of Medical Genetics Part A · 2024
    13. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    14. Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31 Nature Communications · 2013 · 106 citations
    15. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    16. Metformin therapy for the reproductive and metabolic consequences of polycystic ovary syndrome Diabetologia · 2017 · 50 citations
    17. Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (<i>SRD5A2</i>) on post‐traumatic stress symptoms American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2013 · 35 citations
    18. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    19. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    20. FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures Frontiers in Genetics · 2025 · 1 citations
    21. sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome 2025
    22. 40 PRLR and PCCA variants associated with hair length in Brangus heifers 2020
    23. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations
    24. Keratins: the hair shaft's backbone revealed Experimental Dermatology · 2015 · 17 citations
    25. Buschke-Ollendorff syndrome British Journal of Dermatology · 2016 · 1 citations
    26. Unraveling the Comedone Switch through Single-Cell Resolution of Human Acne Lesions bioRxiv (Cold Spring Harbor Laboratory) · 2026
    27. 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma Journal of Investigative Dermatology · 2025
    28. Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism Journal der Deutschen Dermatologischen Gesellschaft · 2012 · 1 citations
    29. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    30. Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek Genes · 2022 · 2 citations