Search
for

    Sort by

    Research 30 of 271

    1. A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome Journal of The European Academy of Dermatology and Venereology · 2009 · 8 citations
    2. Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review Clinical Medicine Insights Case Reports · 2025
    3. Inherited epidermolysis bullosa: clinical and therapeutic aspects Anais Brasileiros de Dermatologia · 2013 · 32 citations
    4. The role of Kindlin-1 in skin homeostasis and tumor development Max Planck Digital Library · 2014
    5. 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome Journal of Investigative Dermatology · 2017
    6. Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot 2024
    7. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    8. Long COVID syndrome: An unfolding enigma The Indian Journal of Medical Research · 2024 · 17 citations
    9. 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
    10. Hair-Thread Tourniquet Syndrome in an Infant With Bony Erosion Annals of Plastic Surgery · 2006 · 43 citations
    11. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    12. 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
    13. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    14. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    15. Oral Presentations Pediatric Dermatology · 2017
    16. The role of B cell-activating factor system in autoimmune diseases: mechanisms, disease implications, and therapeutic advances Frontiers in Immunology · 2025 · 4 citations
    17. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    18. Acquired Uncombable Hair Archives of Dermatology · 1993 · 6 citations
    19. THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE Wiadomości lekarskie (Warsaw Poland) · 2020 · 5 citations
    20. Dermatological complications due to post‑COVID‑19 syndrome: A systematic review Medicine International · 2024 · 6 citations
    21. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    22. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    23. Systemic Comorbidities in Korean Patients with Rosacea: Results from a Multi-Institutional Case-Control Study Journal of Clinical Medicine · 2020 · 17 citations
    24. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    25. PCOS and Depression: Common Links and Potential Targets Reproductive Sciences · 2021 · 96 citations
    26. GLP-1 Receptor Analogs: Evidence Linking to Effect on Metabolic and Reproductive Functions in Patients with PCOS and Obesity Obesity Facts · 2025 · 3 citations
    27. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    28. Das polyzystische Ovarsyndrom: Aktuelle Evidenz und praktische Empfehlungen Diabetologie Und Stoffwechsel · 2020
    29. Issue Information British Journal of Dermatology · 2020
    30. Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases Developmental Medicine & Child Neurology · 1982 · 33 citations