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    Research 901–930 of 1000+

    1. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    2. Dental considerations in acrodermatitis enteropathica: A report of two cases DOAJ (DOAJ: Directory of Open Access Journals) · 2019 · 1 citations
    3. Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis Hormones · 2014 · 1 citations
    4. A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency Hair transplant forum international · 2013 · 1 citations
    5. GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT Journal of the American Geriatrics Society · 2011 · 1 citations
    6. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    7. Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock BMC Pediatrics · 2025
    8. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    9. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    10. 155 Exploring perceived quality of life in middle- to old-aged patients with inherited ichthyosis: a qualitative study Journal of Investigative Dermatology · 2024
    11. Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser Journal of cosmetic dermatology · 2023
    12. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    13. Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report Cureus · 2023
    14. Uncombable hair improved by biotin JEADV Clinical Practice · 2023
    15. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    16. A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown. 2022
    17. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    18. Disorders of Hair Pigmentation CRC Press eBooks · 2021
    19. A case of acrodermatitis enteropathica misdiagnosed as staphylococcal scalded skin syndrome Turkish Journal of Dermatology · 2020
    20. Dermatologic Disorders CRC Press eBooks · 2018
    21. A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome Journal of Dermatological Science · 2016
    22. Ichthyoses Springer eBooks · 2015
    23. Female Androgenetic (?) Alopecia Hair transplant forum international · 2015
    24. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    25. Disorders of Keratinization American journal of clinical dermatology · 2004 · 44 citations
    26. A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome AACE Clinical Case Reports · 2015 · 1 citations
    27. Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration Frontiers in Medicine · 2022
    28. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    29. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    30. Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis British Journal of Dermatology · 2024