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    Research 781–810 of 1000+

    1. RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development Orphanet journal of rare diseases · 2022 · 5 citations
    2. Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings 2017 · 5 citations
    3. Varying Presentation of Type 1 Polyglandular Failure in India 2010 · 4 citations
    4. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 4 citations
    5. Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism American Journal of Case Reports · 2020 · 3 citations
    6. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    7. Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes Case reports in dermatological medicine · 2021 · 2 citations
    8. 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
    9. Dental considerations in acrodermatitis enteropathica: A report of two cases DOAJ (DOAJ: Directory of Open Access Journals) · 2019 · 1 citations
    10. LAMELLAR ICHTHYOSIS: ONE CASE REPORT International Journal of Medical Reviews and Case Reports · 2019 · 1 citations
    11. Advances in the genetic understanding of hypohidrotic ectodermal dysplasia Expert opinion on orphan drugs · 2017 · 1 citations
    12. Answer International Journal of Pediatrics and Adolescent Medicine · 2015 · 1 citations
    13. 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
    14. 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
    15. GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT Journal of the American Geriatrics Society · 2011 · 1 citations
    16. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    17. Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock BMC Pediatrics · 2025
    18. Netherton Syndrome – Responding to Oral Retinoids International Journal of Trichology · 2025
    19. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    20. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    21. 155 Exploring perceived quality of life in middle- to old-aged patients with inherited ichthyosis: a qualitative study Journal of Investigative Dermatology · 2024
    22. Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice Biochemical and Biophysical Research Communications · 2024
    23. Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser Journal of cosmetic dermatology · 2023
    24. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    25. 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
    26. Uncombable hair improved by biotin JEADV Clinical Practice · 2023
    27. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    28. A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown. 2022
    29. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    30. Uncombable hair syndrome and beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022