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    Research 361–390 of 783

    1. Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases Acta dermato-venereologica · 2020 · 1 citations
    2. 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome Journal of Investigative Dermatology · 2017
    3. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    4. Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia Development · 2001 · 114 citations
    5. Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy Archives of Dermatology · 1963 · 74 citations
    6. MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE. British Journal of Dermatology · 1969 · 58 citations
    7. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    8. Skin diseases in the alpaca (<i>Vicugna pacos</i>): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006) Veterinary Dermatology · 2010 · 46 citations
    9. Hair Shaft Videodermoscopy in Netherton Syndrome Pediatric Dermatology · 2008 · 41 citations
    10. Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production Journal of Investigative Dermatology · 2019 · 40 citations
    11. Retinoids and Keratinization International Journal of Dermatology · 1988 · 32 citations
    12. Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome Anais Brasileiros de Dermatologia · 2015 · 30 citations
    13. Off-Label Uses of Topical Vitamin D in Dermatology: A Systematic Review Journal of cutaneous medicine and surgery · 2014 · 26 citations
    14. Trichothiodystrophy with Dysmyelination and Central Osteosclerosis American Journal of Neuroradiology · 2010 · 16 citations
    15. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    16. Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice Cell death and disease · 2014 · 16 citations
    17. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency Archives of dermatology · 2011 · 13 citations
    18. The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions International Journal of Molecular Sciences · 2022 · 11 citations
    19. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    20. Sjogren-Larsson Syndrome 2009 · 8 citations
    21. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    22. Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria Pediatric Dermatology · 1997 · 7 citations
    23. Skin Manifestations of Hypothyroidism-A Clinical Study IOSR Journal of Dental and Medical Sciences · 2013 · 6 citations
    24. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    25. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    26. [Cutaneous manifestations of malabsorption diseases (author's transl)]. PubMed · 1978 · 5 citations
    27. Collodion baby case series: the success of oral retinoic acid Türk pediatri arşivi : İstanbul çocuk kliniği dergisi · 2018 · 4 citations
    28. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    29. The urine as a diagnostic key for a homozygous EGFR mutation Portuguese Journal of Nephrology & Hypertension · 2022 · 2 citations
    30. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations