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    Research 151–180 of 868

    1. The mouse frizzy (<i>fr</i>) and rat ‘hairless’ (<i>fr</i><sup><i>CR</i></sup>) mutations are natural variants of protease serine S1 family member 8 (<i>Prss8</i>) Experimental Dermatology · 2010 · 28 citations
    2. Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population Gene · 2013 · 15 citations
    3. Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes Journal of child neurology · 2012 · 15 citations
    4. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    5. Alopecia: Association with Resistance to Thyroid Hormones 2009 · 8 citations
    6. A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation Journal of dermatological science · 2017 · 5 citations
    7. Connexin mutations in human disease Experimental Dermatology · 2004 · 4 citations
    8. NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis Revista română de medicină de laborator · 2016 · 1 citations
    9. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    10. Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report Journal of Dermatological Treatment · 2024
    11. A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population Neurological Sciences · 2015 · 21 citations
    12. Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients مجلة مركز بحوث التقنيات الاحيائية · 2014 · 2 citations
    13. Granulomatous skin involvement in a patient with an unusual <i>NOD2</i> mutation Australasian Journal of Dermatology · 2016 · 1 citations
    14. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    15. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    16. RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome The American Journal of Human Genetics · 2012 · 112 citations
    17. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    18. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation Nature Communications · 2017 · 96 citations
    19. What causes hidradenitis suppurativa ?—15 years after Experimental Dermatology · 2020 · 78 citations
    20. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    21. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    22. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    23. Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I Pediatric Dermatology · 2016 · 33 citations
    24. Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation PloS one · 2012 · 32 citations
    25. Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women Human Reproduction · 2006 · 25 citations
    26. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    27. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    28. Alopecia in Epidermolysis Bullosa Dermatologic Clinics · 2009 · 21 citations
    29. Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis European Journal of Oral Sciences · 2013 · 20 citations
    30. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability European Journal of Human Genetics · 2015 · 19 citations