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    1. 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
    2. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 9 citations
    3. Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene Journal of The American Academy of Dermatology · 2000 · 2 citations
    4. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    5. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    6. Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed Schweizer Archiv für Tierheilkunde · 2020 · 2 citations
    7. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    8. The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches Nevrologiâ, nejropsihiatriâ, psihosomatika · 2017 · 5 citations
    9. Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica 2010 · 16 citations
    10. Hair shaft structures in EDAR induced ectodermal dysplasia BMC Medical Genetics · 2015 · 5 citations
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