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    Research 61–90 of 1000+

    1. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    2. Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations Archives of Dermatology · 2009 · 44 citations
    3. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    4. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    5. iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice PLoS ONE · 2014 · 15 citations
    6. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations
    7. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003 · 52 citations
    8. CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy Cureus · 2026
    9. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    10. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    11. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
    12. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    13. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    14. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    15. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain 2018 · 14 citations
    16. Hair Shafts in Trichoscopy Dermatologic Clinics · 2013 · 86 citations
    17. Polarized microscopy in genetic hair disorders: case series 2025
    18. Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering PLoS Biology · 2011 · 103 citations
    19. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    20. Hair Loss in Children Current problems in dermatology · 2015 · 24 citations
    21. Role of trichoscopy in diagnosis of different hair and scalp disorders in pediatrics International Journal of Dermatology Venereology and Leprosy Sciences · 2024
    22. Untersuchungen der Fremdstoffbindung in permanenten Keratinozyten- und Melanozyten-Zelllinien sowie die Eignung von Primärkulturen aus humanen Haarfollikeln zur In-vitro-Messung der Fremdstoffaufnahme im Haar Carl von Ossiezky University of Oldenburg · 2006
    23. Molecular basis of hypohidrotic ectodermal dysplasia: an update Journal of Applied Genetics · 2015 · 85 citations
    24. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    25. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    26. Molecular Genetics of Alopecias Current problems in dermatology · 2015 · 9 citations
    27. 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
    28. Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates General and Comparative Endocrinology · 2020 · 21 citations
    29. Corneodesmosin: Structure, Function and Involvement in Pathophysiology The Open Dermatology Journal · 2010 · 2 citations
    30. 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