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    Research 541–570 of 1000+

    1. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    2. Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes Experimental Dermatology · 2019 · 44 citations
    3. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    4. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999 · 37 citations
    5. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    6. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    7. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    8. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    9. New familial association between ocular coloboma and loose anagen syndrome Clinical Genetics · 1995 · 19 citations
    10. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    11. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    12. 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
    13. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    14. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    15. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    16. Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations British Journal of Dermatology · 2015 · 7 citations
    17. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    18. Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine Archives de Pédiatrie · 2011 · 5 citations
    19. Congenital atrichia with papular lesions Dermatology Online Journal · 2020 · 4 citations
    20. Monilethrix International Journal of Trichology · 2013 · 4 citations
    21. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    22. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    23. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    24. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    25. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    26. Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells 2024
    27. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    28. INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS 2008
    29. Tricotiodistrofia. Reporte de un caso Revista del Centro Dermatológico Pascua · 2007
    30. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000