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    Research 781–810 of 801

    1. Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency JCEM Case Reports · 2025
    2. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    3. Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding Genes · 2025
    4. Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib Frontiers in Medicine · 2025
    5. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    6. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    7. Pathogenesis and regenerative therapy in vitiligo and alopecia areata: focus on hair follicle Frontiers in Medicine · 2025
    8. Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia Archives of Dermatological Research · 2024
    9. Study on the expression patterns of inner root sheath-specific genes in Tan sheep hair follicle during different developmental stages Gene · 2024
    10. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    11. The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome Frontiers in Endocrinology · 2023
    12. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting Annals of medicine and surgery · 2022
    13. Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    14. Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    15. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    16. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    17. Genetics Springer eBooks · 2014
    18. Pharmacogenetics of the Androgen Metabolic Pathway 2010
    19. Molecular Genetics of Human Hair Diseases 2008
    20. Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients Medicina · 2024 · 1 citations
    21. SRD5A2 and emerging therapies in androgen-driven disorders Nature Reviews Urology · 2026
    22. Genome-wide detection of RNA editing events during the hair follicles cycle of Tianzhu white yak BMC genomics · 2022
    23. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    24. Identification of novel mutation in the<i>HR</i>gene responsible for atrichia with papular lesions in a Pakistani family The Journal of Dermatology · 2013 · 5 citations
    25. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    26. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    27. Association analysis of polymorphisms in six keratin genes with wool traits in sheep Asian-Australasian journal of animal sciences · 2017 · 17 citations
    28. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript Experimental Dermatology · 2010 · 14 citations
    29. 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2024
    30. Keratin 71 Mutations: From Water Dogs to Woolly Hair 2012 · 11 citations