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    Research 631–660 of 807

    1. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    2. Low-dose tofacitinib for treating patients with severe alopecia areata: an efficient and cost-saving regimen European Journal of Dermatology · 2019 · 15 citations
    3. A mutation in MAP2 is associated with prenatal hair follicle density The FASEB Journal · 2019 · 11 citations
    4. 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
    5. In vivo function of VDR in gene expression-VDR knock-out mice 1999 · 73 citations
    6. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    7. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets Bone Research · 2016 · 7 citations
    8. Expanding the Phenotypic Spectrum of Olmsted Syndrome Journal of Investigative Dermatology · 2015 · 27 citations
    9. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    10. Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    11. Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome 2016
    12. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    13. Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency 2014 · 64 citations
    14. Frequent downregulation of DMBT1 and galectin‐3 in epithelial skin cancer International Journal of Cancer · 2003 · 48 citations
    15. Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma The Journal of Dermatology · 2011 · 11 citations
    16. Region-specific reversal of epidermal planar polarity in the <i>rosette</i> fancy mouse Development · 2023 · 2 citations
    17. Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings International journal of contemporary pediatrics · 2020
    18. Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks Zurich Open Repository and Archive (University of Zurich) · 2016
    19. Clinical Snippets Journal of Investigative Dermatology · 2003
    20. ダブルストロボレンジファインダの開発(特別講演)(画像センシングおよび一般) 映像情報メディア学会技術報告 · 2002
    21. BRCA2 in abscission Nature Cell Biology · 2012
    22. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells The Journal of Dermatology · 2013 · 16 citations
    23. No improvement in male-pattern hair loss using laser hair-comb therapy: a 6-month, half-head, assessor-blinded investigation in two men Clinical and Experimental Dermatology · 2011 · 13 citations
    24. White piedra caused by <i>Trichosporon inkin</i> : a report of two cases in a northern climate British Journal of Dermatology · 2015 · 8 citations
    25. Alopecia: Association with Resistance to Thyroid Hormones 2009 · 8 citations
    26. Wnt Signaling in Skin Development, Homeostasis, and Disease Cold Spring Harbor Perspectives in Biology · 2012 · 260 citations
    27. Roles for Msx and Dlx homeoproteins in vertebrate development Gene · 2000 · 234 citations
    28. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    29. Macrophages Contribute to the Cyclic Activation of Adult Hair Follicle Stem Cells PLoS Biology · 2014 · 175 citations
    30. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations