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    Research 691–720 of 1000+

    1. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    2. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    3. An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome IJEM case reports · 2023
    4. The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i> G3 Genes Genomes Genetics · 2021 · 29 citations
    5. Keratin disorders: from gene to therapy 2011 · 109 citations
    6. Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome Frontiers in endocrinology · 2020 · 29 citations
    7. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome American Journal of Medical Genetics Part A · 2020 · 11 citations
    8. Hutchinson-Gilford Progeria Syndrome: Premature Aging 2026
    9. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances Zenodo (CERN European Organization for Nuclear Research) · 2023
    10. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    11. Tracing the cellular origin of cancer Nature Cell Biology · 2013 · 232 citations
    12. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    13. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    14. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    15. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    16. Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome The Application of Clinical Genetics · 2022 · 2 citations
    17. Decay of Skin-Specific Gene Modules in Pangolins Journal of molecular evolution · 2023 · 1 citations
    18. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    19. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    20. Hutchinson-Gilford progeria syndrome - A brief introduction International Journal of Pharmacological Research · 2018 · 2 citations
    21. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    22. The legacy of Bruce Ames and mitochondrial DNA mutagenicity: integrating oxidative stress, aging, and modern perspectives Frontiers in Molecular Biosciences · 2025
    23. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    24. Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy Journal of Investigative Dermatology · 2013 · 27 citations
    25. 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC Journal of Investigative Dermatology · 2024
    26. 130 Expression of nidogen1 in basal cell carcinoma Journal of Investigative Dermatology · 2018
    27. Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review Pediatric Dermatology · 2025
    28. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    29. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    30. Birt–Hogg–Dubé syndrome Familial cancer · 2013 · 7 citations