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    Research 211–240 of 1000+

    1. Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib Frontiers in Medicine · 2025
    2. Glutathione S-transferase gene polymorphism, total antioxidant status, and blood pressure changes in androgenic alopecia Anadolu Kliniği Tıp Bilimleri Dergisi · 2025
    3. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    4. 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    5. 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    6. The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report Egyptian Journal of Medical Human Genetics · 2024
    7. Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation Case reports in dermatological medicine · 2023
    8. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    9. 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin Journal of Investigative Dermatology · 2023
    10. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    11. Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in pediatrics · 2022
    12. LBODP010 A Case of Glucocorticoid Resistance Syndrome Journal of the Endocrine Society · 2022
    13. Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations Indian Journal of Paediatric Dermatology · 2022
    14. Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents bioRxiv (Cold Spring Harbor Laboratory) · 2022
    15. Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity Pediatrics in review · 2021
    16. A Neonate with Blisters Pediatrics in Review · 2020
    17. 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2019
    18. A direct link between<i>Prss53</i>, hair curvature, and skeletal dysplasia bioRxiv (Cold Spring Harbor Laboratory) · 2019
    19. 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study Journal of Investigative Dermatology · 2018
    20. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    21. The Roles of Smad2 and Smad3 in Mouse Skin Development The Knowledge Bank (The Ohio State University) · 2008
    22. Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners. American Journal of Medical Genetics Part A · 1999
    23. Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India International Journal of experimental research and review · 2024 · 2 citations
    24. Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques Journal of Genetics · 2011 · 1 citations
    25. Determination of TG5 gene polymorphism and its influence on productivity traits of beef cattle reared in Lithuania Lithuanian University of Health Sciences · 2023
    26. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    27. Amino acid–derived defense metabolites from plants: A potential source to facilitate novel antimicrobial development Journal of Biological Chemistry · 2021 · 69 citations
    28. Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana Applied and Environmental Microbiology · 2013 · 13 citations
    29. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    30. Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart? 2021