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    Research 571–600 of 1000+

    1. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    2. HR Gene Variants Identified in Mexican Patients with Alopecia Areata Current Issues in Molecular Biology · 2023 · 6 citations
    3. Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant PloS one · 2012 · 6 citations
    4. Comparative Gene Expression Profiling of Senescent and Androgenetic Alopecia Using Microarray Analysis Springer eBooks · 2010 · 6 citations
    5. The clock within Nature · 2011 · 6 citations
    6. TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target Medeniyet Medical Journal · 2025 · 4 citations
    7. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    8. Validation of the follicular and ovarian thresholds by an 18-MHz ultrasound imaging in polycystic ovary syndrome: a pilot cutoff for North African patients Therapeutic Advances in Reproductive Health · 2024 · 4 citations
    9. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    10. 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1 Archives of Biochemistry and Biophysics · 2001 · 4 citations
    11. A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms International journal of molecular sciences · 2023 · 3 citations
    12. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    13. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    14. Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose BMC Genomics · 2022 · 1 citations
    15. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    16. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    17. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    18. A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene Clinical Case Reports · 2025
    19. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    20. The Impact of Vitamin D Receptor Gene Polymorphisms (FokI, ApaI, TaqI) in Correlation with Oxidative Stress and Hormonal and Dermatologic Manifestations in Polycystic Ovary Syndrome Medicina · 2024
    21. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    22. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    23. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    24. Patched-assoziierte Tumoren: Modifikatorgene und Pathogenese 2022
    25. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    26. 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy Journal of Investigative Dermatology · 2019
    27. 879 Molecular network of Smads and Id2 genes in hair follicle stem cells regulation Journal of Investigative Dermatology · 2017
    28. Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor Springer eBooks · 2016
    29. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    30. SPT6 maintains epidermal homeostasis by inhibiting an NF-κB-positive feedback loop to prevent excessive inflammation Cellular and Molecular Immunology · 2026