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    Research 601–630 of 797

    1. Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata Cutis · 2023
    2. 40 PRLR and PCCA variants associated with hair length in Brangus heifers 2020
    3. 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2019
    4. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    5. Genetics of blond hair Nature Genetics · 2012
    6. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type Journal of Medical Genetics · 2006 · 60 citations
    7. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    8. Deciphering the pathogenesis of central centrifugal cicatricial alopecia 2019
    9. Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil Research Square (Research Square) · 2022
    10. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome International Journal of Molecular Medicine · 2013 · 20 citations
    11. Low-dose tofacitinib for treating patients with severe alopecia areata: an efficient and cost-saving regimen European Journal of Dermatology · 2019 · 15 citations
    12. 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation Journal of Investigative Dermatology · 2017
    13. A mutation in MAP2 is associated with prenatal hair follicle density The FASEB Journal · 2019 · 11 citations
    14. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor Journal of Bone and Mineral Research · 2011 · 37 citations
    15. In vivo function of VDR in gene expression-VDR knock-out mice 1999 · 73 citations
    16. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    17. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    18. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome American Journal of Medical Genetics Part A · 2020 · 11 citations
    19. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    20. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    21. Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency 2014 · 64 citations
    22. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay PLoS Genetics · 2018 · 21 citations
    23. Cantú syndrome with coexisting familial pituitary adenoma Endocrine · 2018 · 14 citations
    24. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    25. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    26. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    27. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    28. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    29. Region-specific reversal of epidermal planar polarity in the <i>rosette</i> fancy mouse Development · 2023 · 2 citations
    30. Abstracts Medizinische Genetik · 2019 · 2 citations