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    Research 211–240 of 1000+

    1. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    2. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    3. 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
    4. Premature aging syndromes: From patients to mechanism Journal of dermatological science · 2019 · 29 citations
    5. Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics ACS Catalysis · 2026
    6. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations
    7. A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia Archives of Biochemistry and Biophysics · 2006 · 37 citations
    8. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    9. Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain Journal of Investigative Dermatology · 2000 · 77 citations
    10. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    11. Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells Medical Sciences · 2017 · 37 citations
    12. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    13. The Opioid Receptor Influences Circadian Rhythms in Human Keratinocytes through the β-Arrestin Pathway Cells · 2024
    14. A Novel Type II Cytokeratin, mK6irs, is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath Journal of Investigative Dermatology · 2001 · 45 citations
    15. Keratin Expression Provides Novel Insight into the Morphogenesis and Function of the Companion Layer in Hair Follicles Journal of Investigative Dermatology · 2006 · 38 citations
    16. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    17. A Ca <sup>2+</sup> /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning Proceedings of the National Academy of Sciences · 2004 · 477 citations
    18. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    19. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 International journal of molecular sciences · 2024
    20. Skin, Genetic Defects, and Aging SpringerBriefs in bioengineering · 2016
    21. How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns Pigment Cell & Melanoma Research · 2013
    22. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    23. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    24. Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    25. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    26. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    27. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    28. Pathology of Mouse Models of Accelerated Aging Veterinary pathology · 2016 · 81 citations
    29. The acyl-CoA binding protein is required for normal epidermal barrier function in mice Journal of Lipid Research · 2012 · 31 citations
    30. Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models Frontiers in Oncology · 2024 · 17 citations