• 1478 Citations
  • 19 h-Index

Research output per year

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Research Output

  • 1478 Citations
  • 19 h-Index
  • 40 Article
  • 3 Chapter
  • 2 Review article
  • 1 Letter

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome

Vojcek, E., Keszthelyi, T. M., Jávorszky, E., Balogh, L. & Tory, K., Jan 1 2020, In : Annals of Human Genetics. 84, 1, p. 80-86 7 p.

Research output: Contribution to journalArticle

Open Access
  • Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

    Szabó, T., Orosz, P., Balogh, E., Jávorszky, E., Máttyus, I., Bereczki, C., Maróti, Z., Kalmár, T., Szabó, A. J., Reusz, G., Várkonyi, I., Marián, E., Gombos, É., Orosz, O., Madar, L., Balla, G., Kappelmayer, J., Tory, K. & Balogh, I., Oct 1 2018, In : Pediatric Nephrology. 33, 10, p. 1713-1721 9 p.

    Research output: Contribution to journalArticle

  • 4 Citations (Scopus)