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    Research 211–240 of 1000+

    1. A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome Fertility and Sterility · 2000 · 20 citations
    2. Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene Clinical and Experimental Dermatology · 2006 · 19 citations
    3. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012 · 17 citations
    4. Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies Movement Disorders · 2011 · 17 citations
    5. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    6. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 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. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    9. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    10. Spironolactone May Reduce the Risk of Incident Rosacea Journal of Investigative Dermatology · 2013 · 6 citations
    11. Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control Journal of Clinical Immunology · 2024 · 5 citations
    12. Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy Movement Disorders · 2011 · 4 citations
    13. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    14. Footprints of the EADV: a meeting report from the 17th Congress of the European Academy of Dermatology and Venereology British Journal of Dermatology · 2009 · 4 citations
    15. Progeroide Syndrome Die Dermatologie · 2023 · 2 citations
    16. Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness bioRxiv (Cold Spring Harbor Laboratory) · 2021 · 2 citations
    17. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    18. The Role of Histone Demethylases in Disease Springer eBooks · 2011 · 1 citations
    19. 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
    20. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    21. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    22. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    23. Unlocking the genetic secrets of Dorper sheep: insights into wool shedding and hair follicle development Frontiers in Veterinary Science · 2024
    24. 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
    25. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    26. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    27. Oral Presentations Pediatric Dermatology · 2017
    28. Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor Springer eBooks · 2016
    29. 195 Androgen action and 3D culture conditions influence dermal papilla cells inductive properties: the role of Wnt agonists/antagonists balance Journal of Investigative Dermatology · 2016
    30. 196 The endocannabinoid tone regulates human sebocyte biology Journal of Investigative Dermatology · 2016