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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report.
Varga, Lukas; Danis, Daniel; Skopkova, Martina; Masindova, Ivica; Slobodova, Zuzana; Demesova, Lucia; Profant, Milan; Gasperikova, Daniela.
Afiliación
  • Varga L; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
  • Danis D; Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Skopkova M; Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Masindova I; Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Slobodova Z; Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Demesova L; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
  • Profant M; Diabgene Laboratory, Biomedical Research Center, University Science Park for Biomedicine, Slovak Academy of Sciences, Bratislava, Slovakia.
  • Gasperikova D; Department of Otorhinolaryngology - Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
BMC Med Genet ; 20(1): 84, 2019 05 17.
Article en En | MEDLINE | ID: mdl-31101089
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transactivadores / Genes Dominantes / Pérdida Auditiva Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged País/Región como asunto: Europa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Eslovaquia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transactivadores / Genes Dominantes / Pérdida Auditiva Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged País/Región como asunto: Europa Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Eslovaquia