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    Research 241–270 of 1000+

    1. Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization Research Square (Research Square) · 2024
    2. Cytokine profiling of alopecia areata phenotypic subsets Journal of the American Academy of Dermatology · 2005
    3. Early onset androgenic alopecia as the male phenotypic equivalent of polycystic ovarian syndrome is associated in high oxidative stress Medicine Science | International Medical Journal · 2021
    4. Clinical and endocrine characteristics of the main polycystic ovary syndrome phenotypes Fertility and Sterility · 2010 · 145 citations
    5. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    6. Ethanol Patch Test—A Simple and Sensitive Method for Identifying ALDH Phenotype Alcoholism Clinical and Experimental Research · 1989 · 66 citations
    7. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    8. 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes Endocrinology · 2015 · 54 citations
    9. Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis 2013 · 51 citations
    10. Transient mitochondrial DNA double strand breaks in mice cause accelerated aging phenotypes in a ROS-dependent but p53/p21-independent manner Cell Death & Differentiation · 2016 · 42 citations
    11. Long-Term Bezafibrate Treatment Improves Skin and Spleen Phenotypes of the mtDNA Mutator Mouse PLoS ONE · 2012 · 42 citations
    12. 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome The Journal of Clinical Endocrinology and Metabolism · 2007 · 42 citations
    13. Single-Cell RNA Profiling of Human Skin Reveals Age-Related Loss of Dermal Sheath Cells and Their Contribution to a Juvenile Phenotype Frontiers in Genetics · 2022 · 37 citations
    14. HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond Endocrinology · 2019 · 30 citations
    15. Senescence-accelerated Mouse (SAM): With Special Reference to Development and Pathobiological Phenotypes ILAR Journal · 1997 · 30 citations
    16. Elevated serum androstenedione is associated with a more severe phenotype in women with polycystic ovary syndrome (PCOS) Hormones · 2014 · 28 citations
    17. Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin Biochemistry and Cell Biology · 1995 · 25 citations
    18. Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice Journal of inherited metabolic disease · 2015 · 19 citations
    19. Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function Cell Death and Disease · 2015 · 17 citations
    20. Is there association between thyroid stimulating hormone levels and the four phenotypes in polycystic ovary syndrome? Ginekologia Polska · 2022 · 15 citations
    21. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    22. Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity Reproductive Medicine and Biology · 2025 · 14 citations
    23. A Neutralizing Prolactin Receptor Antibody Whose In Vivo Application Mimics the Phenotype of Female Prolactin Receptor-Deficient Mice Endocrinology · 2015 · 14 citations
    24. CRISPR/Cas9-mediated Disruption of Fibroblast Growth Factor 5 in Rabbits Results in a Systemic Long Hair Phenotype by Prolonging Anagen Genes · 2020 · 13 citations
    25. Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma Experimental Dermatology · 2016 · 8 citations
    26. ‘Malignant melanoma microecosystem’: Immunohistopathological insights into the stromal cell phenotype Experimental and Therapeutic Medicine · 2011 · 8 citations
    27. Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype S. Karger AG eBooks · 2012 · 7 citations
    28. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    29. Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese Phenomics · 2024 · 5 citations
    30. Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice GeroScience · 2025 · 4 citations