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    Research 361–390 of 606

    1. 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
    2. De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia BMC Medical Genomics · 2024 · 3 citations
    3. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    4. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    5. PA33 When bones speak through nails: insights from a paediatric case series British Journal of Dermatology · 2025
    6. Current and future perspectives on clinical management of classic 21-hydroxylase deficiency Endocrine Journal · 2023
    7. SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome Journal of the Endocrine Society · 2019
    8. AAPS and PSRC 2016 Abstract Supplement Plastic and reconstructive surgery. Global open · 2016
    9. Strange cutaneous abnormalities and polyposis in an Asiatic man European journal of internal medicine · 2019
    10. Molecular basis of androgen insensitivity Molecular and Cellular Endocrinology · 2001 · 309 citations
    11. Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis Nature · 2000 · 303 citations
    12. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    13. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    14. Finasteride use in the male infertility population: effects on semen and hormone parameters Fertility and Sterility · 2013 · 54 citations
    15. Role of the vitamin D receptor in hair follicle biology The Journal of Steroid Biochemistry and Molecular Biology · 2007 · 54 citations
    16. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    17. Zfp462 deficiency causes anxiety‐like behaviors with excessive self‐grooming in mice Genes Brain & Behavior · 2016 · 49 citations
    18. Pubic Hair Removal—Pearls and Pitfalls Journal of Pediatric and Adolescent Gynecology · 2006 · 41 citations
    19. Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations Cell death and differentiation · 2014 · 36 citations
    20. Physiological Insights from the Vitamin D Receptor Knockout Mouse Calcified Tissue International · 2012 · 34 citations
    21. Tissue engineering strategies combining molecular targets against inflammation and fibrosis, and umbilical cord blood stem cells to improve hampered muscle and skin regeneration following cleft repair Medicinal Research Reviews · 2019 · 30 citations
    22. The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17 ˜The œAmerican journal of pathology · 2011 · 24 citations
    23. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    24. Human ClinicalPhenotype Associated with FOXN1 Mutations Advances in experimental medicine and biology · 2009 · 22 citations
    25. The Transient Role for Calcium and Vitamin D during the Developmental Hair Follicle Cycle Journal of Investigative Dermatology · 2016 · 18 citations
    26. Presumptive Albendazole Toxicosis in 12 Alpacas Journal of veterinary internal medicine · 2009 · 14 citations
    27. miR‐203a‐3p promotes loureirin A‐induced hair follicle stem cells differentiation by targeting Smad1 ˜The œanatomical record · 2020 · 12 citations
    28. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    29. Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report. DOAJ (DOAJ: Directory of Open Access Journals) · 2018 · 11 citations
    30. Androgen Levels and Body Size Are Associated with Directional as Well as Fluctuating Asymmetry Patterns in Adult !Kung San and Kavango Males from Northern Namibia Symmetry · 2017 · 10 citations