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    Research 151–180 of 819

    1. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    2. 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
    3. [Cutaneous manifestations of malabsorption diseases (author's transl)]. PubMed · 1978 · 5 citations
    4. Collodion baby case series: the success of oral retinoic acid Türk pediatri arşivi : İstanbul çocuk kliniği dergisi · 2018 · 4 citations
    5. [Netherton's syndrome in two sisters]. PubMed · 2002 · 3 citations
    6. The urine as a diagnostic key for a homozygous EGFR mutation Portuguese Journal of Nephrology & Hypertension · 2022 · 2 citations
    7. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    8. Trichothiodystrophy without associated neuroectodermal features in two siblings International Journal of Trichology · 2018 · 2 citations
    9. A STUDY ON CUTANEOUS MANIFESTATIONS OF HYPOTHYROIDISM IN A TERTIARY HOSPITAL IN SOUTH INDIA Journal of Evolution of Medical and Dental Sciences · 2015 · 2 citations
    10. Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions International journal of molecular sciences · 2023 · 2 citations
    11. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    12. Gene Therapy: Recent Advances and Applications in Dermatology Journal of Cutaneous Medicine and Surgery · 1996 · 1 citations
    13. FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures Frontiers in Genetics · 2025 · 1 citations
    14. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    15. Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report Clinical Cosmetic and Investigational Dermatology · 2026
    16. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    17. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    18. ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ 2026
    19. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    20. Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments. PubMed · 2025
    21. Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa Revista Digital de Postgrado · 2025
    22. Severe Hypernatremia as Presentation of Netherton Syndrome Global Medical Genetics · 2023
    23. Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family Acta Scientific Paediatrics · 2023
    24. Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report Indian dermatology online journal · 2023
    25. Genes of Congenital Dermatologic Disorders in Dogs—A Review Folia veterinaria · 2021
    26. Relationship between the level of vitamin D in bloof flow and skin dermatosis Rossiiskii Zhurnal Kozhnykh i Venericheskikh Boleznei · 2021
    27. Miscellaneous Skin Diseases Clinical Small Animal Internal Medicine · 2020
    28. Uso actual de la vitamina D en dermatología Revista Medicina Cutánea Ibero-Latino-Americana · 2019
    29. Congenital and Hereditary Skin Diseases 2018
    30. Congenital and Hereditary Skin Diseases 2018