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    Research 151–180 of 1000+

    1. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 生物医学研究杂志:英文版 · 2011 · 3 citations
    2. Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome Endocrine journal · 2008 · 3 citations
    3. Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep Journal of Advanced Research · 2023 · 2 citations
    4. The Tabby (Ta), Tabby-c (Tac), and Tabby-J (TaJ) Mutations, Chromosome X CRC Press eBooks · 2020 · 2 citations
    5. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    6. Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients مجلة مركز بحوث التقنيات الاحيائية · 2014 · 2 citations
    7. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    8. An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon · 2023 · 1 citations
    9. The Shaven (Sha) Mutation, Chromosome 15 2020 · 1 citations
    10. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    11. Characterization of novel TMEM173 mutation with additive IFIH1 risk allele bioRxiv (Cold Spring Harbor Laboratory) · 2018 · 1 citations
    12. Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017 · 1 citations
    13. Discreet monilethrix: De novo mutation on the example of polish families International Journal of Trichology · 2017 · 1 citations
    14. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    15. Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation Australasian Journal of Dermatology · 2016 · 1 citations
    16. Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation Journal of the European Academy of Dermatology and Venereology · 2015 · 1 citations
    17. The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein Journal of Investigative Dermatology · 2007 · 1 citations
    18. Impact of mutations in PRLR for hair weight, circulating prolactin concentrations, feed intake, and growth of beef cattle in a hot and humid climate Frontiers in Endocrinology · 2026
    19. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    20. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    21. Somatic mutations distinguish melanocyte subpopulations in human skin bioRxiv (Cold Spring Harbor Laboratory) · 2026
    22. CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy Cureus · 2026
    23. Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice JID Innovations · 2026
    24. Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients Clinical Cosmetic and Investigational Dermatology · 2025
    25. 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
    26. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    27. Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report Dermatology Reports · 2025
    28. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 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. 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