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    Research 31–60 of 1000+

    1. The polycystic ovary syndrome: a position statement from the European Society of Endocrinology European Journal of Endocrinology · 2014 · 467 citations
    2. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    3. [Proteomics-based screening of differentially expressed proteins in skin of Chinese merino fine sheep (JunKen type) of different gender]. PubMed · 2022 · 1 citations
    4. Oligomenorrhoea in Exercising Women Sports Medicine · 2009 · 11 citations
    5. MANAGEMENT OF ENDOCRINE DISEASE Hyperandrogenic states in women: pitfalls in laboratory diagnosis European Journal of Endocrinology · 2018 · 16 citations
    6. 211 TRIGLYCERIDEMIA IN CONDITION OF FOOD STRESS IN WOMEN WITH POLYCYSTIC OVARY SYNDROME AND ANDROGENIC ALOPECIA Reproductive Biomedicine Online · 2010
    7. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    8. 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
    9. Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color Journal of the American Academy of Dermatology · 2005 · 25 citations
    10. 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
    11. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    12. Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant Genes · 2025
    13. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    14. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    15. Adverse Reactions to Biologic Medications Used in Allergy and Immunology Diseases Current Allergy and Asthma Reports · 2022 · 2 citations
    16. Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa Pediatric dermatology · 2023
    17. POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER Cumhuriyet medical journal · 2022
    18. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    19. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    20. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    21. Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1 Endocrinology, diabetes & metabolism case reports · 2020 · 2 citations
    22. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    23. A young male with kidney damage from genetic mitochondrial disease: case report and literature review BMC Nephrology · 2026
    24. Central centrifugal cicatricial alopecia: a subtype of lichen planopilaris in African descent? Portuguese Journal of Dermatology and Venereology · 2024
    25. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    26. The role of AUTS2 in neurodevelopment and human evolution Trends in Genetics · 2013 · 118 citations
    27. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    28. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    29. Features of sensitization in patients with alopecia areata, associated with atopic diseases Russian Journal of Allergy · 2024
    30. Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene Clinical Pediatric Endocrinology · 1992 · 3 citations