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    Research 91–120 of 194

    1. Potential Autoimmune Association between Benign Paroxysmal Positional Vertigo and Immune-mediated Skin Conditions: Population-based Cohort Study bioRxiv (Cold Spring Harbor Laboratory) · 2019
    2. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    3. XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss Advanced Science · 2026
    4. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    5. 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
    6. Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family Journal of clinical laboratory analysis · 2021 · 4 citations
    7. Whole Neonatal Cochlear Explants as an <em>In vitro</em> Model Journal of visualized experiments · 2023 · 1 citations
    8. Zinc deficiency triggers hearing loss by reducing ribbon synapses of inner hair cells in CBA/N mice Biochemical and Biophysical Research Communications · 2024
    9. Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx OPAL (Open@LaTrobe) (La Trobe University) · 2021
    10. Early Onset Werner Syndrome Turkish Journal of Endocrinology and Metabolism · 2015
    11. Chemical Screening for Hair Cell Loss and Protection in the Zebrafish Lateral Line Zebrafish · 2010 · 114 citations
    12. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    13. Defining the Cellular Environment in the Organ of Corti following Extensive Hair Cell Loss: A Basis for Future Sensory Cell Replacement in the Cochlea PloS one · 2012 · 71 citations
    14. Epithelial skirt and bulge of human facial vellus hair follicles and and associated Merkel cell-nerve complex Archives of Dermatological Research · 1993 · 48 citations
    15. The Role of Nrf2 in Hearing Loss Frontiers in Pharmacology · 2021 · 17 citations
    16. AN UPDATE OF HAIR SHAFT DISORDERS Dermatologic clinics · 1996 · 12 citations
    17. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    18. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    19. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    20. Aplasia cutis congenita on lumbosacral area Indian dermatology online journal · 2014 · 3 citations
    21. Clinical Features and Treatment Options of Vogt-Koyanagi-Harada Disease IntechOpen eBooks · 2025 · 2 citations
    22. Relapsing Polychondritis Following Alopecia Areata Case Reports in Medicine · 2010 · 2 citations
    23. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021 · 1 citations
    24. Author reply Cancer · 2004 · 1 citations
    25. Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient Journal of Clinical Medicine · 2025
    26. Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report Journal of Dermatological Treatment · 2024
    27. Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report Indian dermatology online journal · 2023
    28. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    29. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    30. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations