Search
for

    Sort by

    Research 30 of 208

    1. Adrenoleukodystrophy: A Rare Case Report Journal of Bangladesh College of Physicians and Surgeons · 1970 · 4 citations
    2. MSC-derived exosomes protect auditory hair cells from neomycin-induced damage via autophagy regulation Biological Research · 2024
    3. Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications The Journal of Dermatology · 2010 · 29 citations
    4. Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome British Journal of Dermatology · 2011 · 6 citations
    5. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    6. Stem Cell-Based Hair Cell Regeneration and Therapy in the Inner Ear Neuroscience Bulletin · 2023 · 26 citations
    7. Audiological abnormalities in patients with alopecia areata Journal of The European Academy of Dermatology and Venereology · 2013 · 11 citations
    8. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    9. Fibrinogen and LDL apheresis in treatment of sudden hearing loss: a randomised multicentre trial The Lancet · 2002 · 177 citations
    10. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    11. Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient Journal of Clinical Medicine · 2025
    12. 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
    13. A young male with kidney damage from genetic mitochondrial disease: case report and literature review BMC Nephrology · 2026
    14. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature Journal of endocrinological investigation · 2014 · 31 citations
    15. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    16. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    17. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice Neurobiology of aging · 2008 · 62 citations
    18. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    19. Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings Scholars Journal of Medical Case Reports · 2021
    20. Management of congenital ichthyoses: European guidelines of care, part two British Journal of Dermatology · 2018 · 66 citations
    21. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    22. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    23. Cardiodermatology: the heart of the connection between the skin and cardiovascular disease Nature Reviews Cardiology · 2024 · 10 citations
    24. The urine as a diagnostic key for a homozygous EGFR mutation Portuguese Journal of Nephrology & Hypertension · 2022 · 2 citations
    25. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    26. Melanocytes and Vitiligo (and Hair Graying) Elsevier eBooks · 2014 · 1 citations
    27. The Skin and Subcutaneous Tissues Springer eBooks · 2013 · 1 citations
    28. Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus · 2025
    29. Historical Archives British Journal of Dermatology · 2013
    30. Use of chemotherapy during human pregnancy Lancet Oncology · 2004 · 724 citations