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    Research 571–600 of 1000+

    1. <i>WNT10A</i> , dermatology and dentistry British Journal of Dermatology · 2021 · 30 citations
    2. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    3. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 citations
    4. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    5. DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE International Journal of Dermatology · 1995 · 18 citations
    6. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain 2018 · 14 citations
    7. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    8. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    9. Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia Journal of Clinical Research in Pediatric Endocrinology · 2019 · 9 citations
    10. The oestrogen receptor 2 (<i>ESR2</i>) gene in female-pattern hair loss: replication of association with rs10137185 in German patients British Journal of Dermatology · 2013 · 4 citations
    11. Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium AFRICAN JOURNAL OF BIOTECHNOLOGY · 2011 · 2 citations
    12. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    13. Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment 2018 · 1 citations
    14. 5-Alpha-reductase deficiency in a Saudi "girl" Postgraduate medical journal · 1995 · 1 citations
    15. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    16. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    17. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    18. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026
    19. Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant Cureus · 2025
    20. A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler Journal of Saidu Medical College Swat · 2025
    21. Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder OBM Genetics · 2025
    22. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    23. A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS PARIPEX INDIAN JOURNAL OF RESEARCH · 2023
    24. SEBACEOUS ADENITIS IN AKITA DOG – CASE REPORT 2022
    25. Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings Scholars Journal of Medical Case Reports · 2021
    26. Epicardial fat thickness in children with classic congenital adrenal hyperplasia Journal of Clinical Research in Pediatric Endocrinology · 2018
    27. Penis Endocrinology 2017
    28. Decades of progressive red and yellow nodules 2011
    29. Surgical approach of ectropion in lamellar ichthyosis Journal of The American Academy of Dermatology · 2010
    30. Ischemic onycholysis of the hands Journal of The American Academy of Dermatology · 2010