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    Research 31–60 of 590

    1. Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism Journal of Biomedical Science · 2023
    2. Types of Human Stem Cells and Their Therapeutic Applications Stem Cell Discovery · 2014 · 4 citations
    3. Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model International Journal of Molecular Sciences · 2022 · 3 citations
    4. 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
    5. The molecular basis of human keratin disorders Human Genetics · 2009 · 79 citations
    6. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex International Journal of Molecular Sciences · 2021 · 40 citations
    7. Unmet Medical Needs in Chronic, Non-communicable Inflammatory Skin Diseases Frontiers in medicine · 2022 · 59 citations
    8. Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA eLife · 2019 · 49 citations
    9. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    10. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    11. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    12. MEX3A regulates <i>Lgr5</i> <sup>+</sup> stem cell maintenance in the developing intestinal epithelium EMBO Reports · 2020 · 27 citations
    13. Venus trap in the mouse embryo reveals distinct molecular dynamics underlying specification of first embryonic lineages EMBO Reports · 2015 · 25 citations
    14. Sex-limited chromosomes and non-reproductive traits BMC Biology · 2022 · 10 citations
    15. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    16. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    17. Mitochondrial DNA Variation in Human Hair Shafts Influenced by Physical Characteristics: A Massively Parallel Sequencing Analysis Genes · 2026
    18. Industry updates in advanced therapy medicinal products and regenerative medicine – March 2026 Regenerative Medicine · 2026
    19. The X Factor in Immunity: Sex Differences Shaped by the X Chromosome Immunological Reviews · 2026
    20. Potential of Natural Products in Hangeshashinto Water Extract on the Direct Suppression of Stomatitis Induced by Intra-/Extracellular Advanced Glycation End-Products International Journal of Molecular Sciences · 2025
    21. Poster Presentations at the 28th Joint Meeting of the International Society of Dermatopathology, March 5–6, 2025, Orlando, Florida, USA American Journal of Dermatopathology · 2025
    22. Evolution of long scalp hair in humans British Journal of Dermatology · 2025
    23. Author Index Journal of the American Academy of Dermatology · 2005
    24. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    25. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    26. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    27. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    28. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    29. Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation International Journal of Molecular Sciences · 2026
    30. CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma British Journal of Dermatology · 2023