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    Research 901–930 of 1000+

    1. Systemic testosterone induces structural, immunological, and sex steroid receptor changes in human XX skin Scientific Reports · 2026
    2. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    3. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    4. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    5. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    6. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    7. Abstracts Medizinische Genetik · 2019 · 2 citations
    8. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    9. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
    10. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    11. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    12. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    13. <i>AXR3</i>and<i>SHY2</i>interact to regulate root hair development Development · 2003 · 157 citations
    14. Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat Journal of Biological Chemistry · 2005 · 17 citations
    15. Recent advances in congenital ichthyoses 2015 · 10 citations
    16. Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet ˜The œFASEB journal · 2013 · 28 citations
    17. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    18. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen Nature Communications · 2014 · 50 citations
    19. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    20. The alopecia areata phenotype is induced by the water avoidance stress test in <i>cchcr1</i>-deficient mice bioRxiv (Cold Spring Harbor Laboratory) · 2020
    21. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    22. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    23. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    24. Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice GeroScience · 2025 · 4 citations
    25. Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype Signal Transduction and Targeted Therapy · 2017 · 35 citations
    26. Hair phenotype diversity across Indriidae lemurs bioRxiv (Cold Spring Harbor Laboratory) · 2021 · 2 citations
    27. Facial skin aging: an integrative analysis of genetics, epigenetics, and lifestyle factors GeroScience · 2025
    28. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    29. Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update Journal of Dermatological Science · 2012 · 52 citations
    30. The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle Animal Genetics · 2007 · 51 citations