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Broadening the phenotype of the TWNK gene associated Perrault syndrome.
Fekete, Bálint; Pentelényi, Klára; Rudas, Gabor; Gál, Anikó; Grosz, Zoltán; Illés, Anett; Idris, Jimoh; Csukly, Gabor; Domonkos, Andor; Molnar, Maria Judit.
Afiliação
  • Fekete B; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary. Fba8713@gmail.com.
  • Pentelényi K; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
  • Rudas G; MR Research Centre, Semmelweis University, Budapest, Hungary.
  • Gál A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
  • Grosz Z; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
  • Illés A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
  • Idris J; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
  • Csukly G; Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary.
  • Domonkos A; Institute of Experimental Medicine of the Hungarian Academy of Sciences, Budapest, Hungary.
  • Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 26 Ülloi Rd, Budapest, 1085, Hungary.
BMC Med Genet ; 20(1): 198, 2019 12 18.
Article em En | MEDLINE | ID: mdl-31852434
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / DNA Helicases / Disgenesia Gonadal 46 XX / Proteínas Mitocondriais / Perda Auditiva Neurossensorial Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / DNA Helicases / Disgenesia Gonadal 46 XX / Proteínas Mitocondriais / Perda Auditiva Neurossensorial Idioma: En Ano de publicação: 2019 Tipo de documento: Article