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    Research 901–930 of 1000+

    1. 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
    2. Attention to Innate Circadian Rhythm and the Impact of Its Disruption on Diabetes Diabetes & metabolism journal · 2024
    3. Heart Failure Due to Cardiac Transthyretin Amyloidosis ABC Heart Failure & Cardiomyopathy · 2021
    4. News in brief Expert Review of Dermatology · 2012
    5. Disorders linked to insufficient androgen action in male children 2001
    6. Primary Generalized Glucocorticoid Resistance and Hypersensitivity Hormone Research in Paediatrics · 2011 · 48 citations
    7. Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets KARGER eBooks · 2003 · 29 citations
    8. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    9. A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease Turkish Journal of Cerebrovascular Diseases · 2025
    10. The Editor's Choice Journal of Dermatological Science · 2018
    11. Bamboo Hair Syndrome or Netherton Syndrome - A Case Report IOSR journal of dental and medical sciences · 2017
    12. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    13. Region-specific reversal of epidermal planar polarity in the <i>rosette</i> fancy mouse Development · 2023 · 2 citations
    14. Plain language summaries British Journal of Dermatology · 2016
    15. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003 · 42 citations
    16. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    17. Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice Acta histochemica · 2012 · 11 citations
    18. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    19. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    20. Generalised Glucocorticoid Resistance US endocrinology · 2008
    21. Natural potent androgens: Lessons from human genetic models Baillière s Clinical Endocrinology and Metabolism · 1998 · 60 citations
    22. No evidence for <i>THAP1</i>/<i>DYT6</i> variants as disease modifiers in DYT1 dystonia Movement Disorders · 2011 · 10 citations
    23. Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1 ‐mediated P53 ubiquitination Animal Models and Experimental Medicine · 2026
    24. Traditional Strategies and Cutting-Edge Technologies Used for Animal Breeding: A Comprehensive Review Sustainable food connect. · 2025
    25. Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency Journal of Investigative Dermatology · 2014 · 24 citations
    26. Disorders linked to insufficient androgen action in male children Human reproduction update · 2001 · 111 citations
    27. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    28. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    29. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    30. The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice Proceedings of the National Academy of Sciences · 2009 · 73 citations