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    Research 31–60 of 849

    1. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    2. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    3. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    4. In Search of New Therapeutics—Molecular Aspects of the PCOS Pathophysiology: Genetics, Hormones, Metabolism and Beyond International Journal of Molecular Sciences · 2020 · 44 citations
    5. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    6. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    7. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status European journal of endocrinology · 1999 · 19 citations
    8. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    9. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    10. Recent Advances in Drug Design and Drug Discovery for Androgen- Dependent Diseases Current Medicinal Chemistry · 2016 · 11 citations
    11. Endocrine systems of the skin Postepy Dermatologii I Alergologii · 2019 · 9 citations
    12. Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker Australasian Journal of Dermatology · 2019 · 7 citations
    13. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    14. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    15. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy Case reports in endocrinology · 2015 · 1 citations
    16. Common Forms of Congenital Adrenal Hyperplasia Elsevier eBooks · 2017
    17. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    18. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    19. Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome (PCOS) Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment Research Square (Research Square) · 2024
    20. Identification of Potential Cytochrome p450c 17 Alpha Inhibitors for the Treatment of PCOS via Scaffold Hopping and Fragment-Based De-Novo Drug Design 2024
    21. Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report Medicine and Pharmacy Reports · 2023
    22. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    23. SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS Journal of the Endocrine Society · 2020
    24. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    25. Steroidogenesis in steroid related cancers University of Birmingham Institutional Research Archive (University of Birmingham) · 2016
    26. Pharmacophore Modeling and Three Dimensional Database Searching for Drug Design Using Catalyst: Recent Advances Current Medicinal Chemistry · 2004 · 153 citations
    27. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 Nature Communications · 2019 · 115 citations
    28. Cytochrome P450: A Target for Drug Development for Skin Diseases 2004 · 115 citations
    29. Gene-wide association study between the aromatase gene (<i>CYP19A1</i>) and female pattern hair loss British Journal of Dermatology · 2009 · 77 citations
    30. Steroidogenesis of the testis – new genes and pathways Annales d'endocrinologie · 2014 · 70 citations