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    Research 91–120 of 811

    1. Polycystic ovary syndrome Nature Reviews Disease Primers · 2024 · 292 citations
    2. An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome IJEM case reports · 2023
    3. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    4. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    5. Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity Reproductive Medicine and Biology · 2025 · 14 citations
    6. Síndrome de ovario poliquístico Revista del Hospital Italiano de Buenos Aires · 2017 · 4 citations
    7. Microglia: sculptors of the polycystic ovary syndrome (PCOS)-like brain? Reproduction · 2023 · 1 citations
    8. Early lead exposure and pubertal development in a Mexico City population Environment international · 2019 · 29 citations
    9. Maternal androgen excess significantly impairs sexual behavior in male and female mouse offspring: Perspective for a biological origin of sexual dysfunction in PCOS Frontiers in Endocrinology · 2023
    10. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    11. Serum anti-Müllerian hormone: A potential biomarker for polycystic ovary syndrome International Journal of Microbiology Research · 2023 · 15 citations
    12. Diffuser Haarausfall und klinische Endokrinologie: Neue Erkenntnisse Journal für Kardiologie (Krause & Pachernegg GmbH) · 2013
    13. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    14. Biotinidase Deficiency and Seizures Pediatric Neurology Briefs · 1987
    15. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    16. Eyebrow and Eyelash Alopecia: A Clinical Review American journal of clinical dermatology · 2022 · 6 citations
    17. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    18. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    19. Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature Pediatric neurology · 2008 · 23 citations
    20. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    21. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    22. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    23. Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review American Journal of Medical Genetics Part A · 2021 · 10 citations
    24. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    25. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 International journal of molecular sciences · 2024
    26. Inherited Epidermolysis Bullosa: A Clinical Case Medical journal of clinical trials & case studies · 2020
    27. Current aspects of polycystic ovary syndrome: A literature review Revista Da Associacao Medica Brasileira · 2016 · 15 citations
    28. Hyperandrogenismus, adrenale Dysfunktion und Hirsutismus Der Hautarzt · 2020 · 13 citations
    29. Early Diffuse Alopecia in a Neonate with Congenital Syphilis Pediatric Dermatology · 2006 · 7 citations
    30. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025