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    1. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    2. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    3. Compound Heterozygous Mutations in <i>Forkhead Box N1</i> (<i>FOXN1</i>) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients 2018
    4. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    5. Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review Dermatology · 2013 · 3 citations
    6. SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report. Journal of the Endocrine Society · 2019
    7. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis The Journal of Dermatology · 2013 · 6 citations
    8. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 9 citations
    9. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 2 citations
    10. Novel compound heterozygous mutations in the<i>desmoplakin</i>gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy Clinical and Experimental Dermatology · 2014 · 5 citations
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