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    Research 61–90 of 1000+

    1. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    2. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    3. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    4. Tricotiodistrofia. Reporte de un caso Revista del Centro Dermatológico Pascua · 2007
    5. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    6. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    7. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    8. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    9. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    10. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    11. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    12. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    13. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    14. Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia The American Journal of Human Genetics · 2012 · 74 citations
    15. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    16. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    17. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998 · 83 citations
    18. A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers Journal of Comparative Pathology · 2004 · 11 citations
    19. When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman The Neurologist · 2022 · 3 citations
    20. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    21. P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses Genetics in Medicine Open · 2024
    22. Atrichia With Papular Lesions Archives of Dermatology · 1986 · 32 citations
    23. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    24. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    25. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    26. Gene detection in a family with monilethrix and treatment with 5% topical minoxidil Skin research and technology · 2022 · 2 citations
    27. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    28. Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype BMC genomics · 2024
    29. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    30. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations