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    Research 30 of 194

    1. Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Science Advances · 2025 · 3 citations
    2. Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves Australian veterinary journal · 2012 · 5 citations
    3. Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy Journal of Pediatric Gastroenterology and Nutrition · 2009 · 26 citations
    4. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    5. Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument Neuropediatrics · 2004 · 80 citations
    6. Shared Phenotypes Among Segmental Progeroid Syndromes Suggest Underlying Pathways of Aging The Journals of Gerontology Series A · 2005 · 69 citations
    7. Index Harper's Textbook of Pediatric Dermatology · 2019
    8. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    9. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    10. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    11. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    12. Familial Dyskeratotic Comedones: A Case Report and Literature Review Clinical Cosmetic and Investigational Dermatology · 2023 · 1 citations
    13. Differential diagnosis of alopetia in children and adolescents Pediatrie pro praxi · 2024 · 1 citations
    14. Painful thickened skin on the soles of the feet JAAD case reports · 2022
    15. Pioneers in Dermatology and Venereology: An Interview with Professor Danilo V. Stevanovic Journal of the European Academy of Dermatology and Venereology · 2021
    16. Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism Authorea (Authorea) · 2022
    17. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    18. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    19. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    20. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    21. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    22. Madarosis Survey of Ophthalmology · 2006 · 33 citations
    23. Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome The American Journal of Dermatopathology · 2005 · 31 citations
    24. Acquired Acrodermatitis Enteropathica in an Infant Cutis · 2022
    25. Replicative stress, stem cells and aging Mechanisms of Ageing and Development · 2008 · 70 citations
    26. Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss Cell Stem Cell · 2007 · 688 citations
    27. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    28. Dermatopathology Workshop Summary, Berlin 2004 Journal of Investigative Dermatology Symposium Proceedings · 2005
    29. Acquired scalp alopecia. Part I: A review Australasian Journal of Dermatology · 1998 · 44 citations
    30. Non-Neoplastic Disorders of Hair Elsevier eBooks · 2010