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    Research 121–150 of 1000+

    1. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>) Veterinary pathology · 2010 · 10 citations
    2. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    3. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    4. A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits BMC genomics · 2023 · 5 citations
    5. Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus 2019 · 3 citations
    6. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    7. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    8. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    9. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    10. Cyproterone Acetate: A Genotoxic Carcinogen? Pharmacology & Toxicology · 2001 · 1 citations
    11. Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017 · 1 citations
    12. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    13. Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2025
    14. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    15. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    16. Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017
    17. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    18. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    19. Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness Human Genetics · 2009 · 42 citations
    20. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    21. The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat ) Molecular Genetics and Metabolism Reports · 2014 · 9 citations
    22. Hidradenitis suppurativa and Mediterranean fever gene mutations JAAD Case Reports · 2019 · 7 citations
    23. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    24. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    25. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    26. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    27. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    28. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    29. Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report Journal of Dermatological Treatment · 2024
    30. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022