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    1. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 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. Microbial harmony in female reproductive health: exploring the impact of intestinal flora on ovarian function and disease pathogenesis American Journal of Translational Research · 2024 · 5 citations
    4. Maternal androgen excess inhibits fetal cardiomyocytes proliferation through RB-mediated cell cycle arrest and induces cardiac hypertrophy in adulthood Journal of Endocrinological Investigation · 2023 · 2 citations
    5. The genetics of autism and steroid-related traits in prenatal and postnatal life Frontiers in Endocrinology · 2023 · 1 citations
    6. Effects of the prenatal and postnatal nurturing environment on the phenotype and gut microbiota of mice with polycystic ovary syndrome induced by prenatal androgen exposure: a cross-fostering study Frontiers in Cell and Developmental Biology · 2024 · 3 citations
    7. Association between DNA Methylation in the Core Promoter Region of the CUT-like Homeobox 1 (CUX1) Gene and Lambskin Pattern in Hu Sheep Genes · 2023 · 1 citations
    8. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    9. Ichthyosis with confetti: a rare diagnosis and treatment plan BMJ case reports · 2014 · 7 citations
    10. The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine Wiley-Blackwell eBooks · 2009 · 1 citations
    11. One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions The Milbank Quarterly · 2005 · 35 citations
    12. Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants Frontiers in Genetics · 2024 · 13 citations
    13. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia The Journal of Sexual Medicine · 2019 · 11 citations
    14. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    15. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    16. DERMATOLOGICAL AND SYSTEMIC REACTIONS TO HAIR DYES: CURRENT EVIDENCE AND MANAGEMENT International Journal of Applied Pharmaceutics · 2026
    17. Hutchinson-Gilford syndrome: History, causes, phenotype and research advances GSC Advanced Research and Reviews · 2023
    18. Hair Cortisol: A Biomarker of Chronic Stress in Animals and its Association with Reproduction Animal Reproduction Update · 2023
    19. Penis Endocrinology 2017
    20. Cutaneous signals of immune system disease Current problems in dermatology · 1991
    21. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    22. The Rotterdam Study: 2016 objectives and design update European Journal of Epidemiology · 2015 · 336 citations
    23. 46,XY DSD due to impaired androgen production 2010 · 54 citations
    24. Improving translational research in sex-specific effects of comorbidities and risk factors in ischaemic heart disease and cardioprotection: position paper and recommendations of the ESC Working Group on Cellular Biology of the Heart Cardiovascular Research · 2020 · 47 citations
    25. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    26. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    27. 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
    28. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    29. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    30. Management of CAH during pregnancy Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 29 citations