• 1427 Citations
  • 18 h-Index
19972019
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Fingerprint Dive into the research topics where K. Tory is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 15 Similar Profiles
Mutation Medicine & Life Sciences
Nephrotic Syndrome Medicine & Life Sciences
Insulin Resistance Medicine & Life Sciences
Steroids Medicine & Life Sciences
Insulin Medicine & Life Sciences
Chronic Kidney Failure Medicine & Life Sciences
Focal Segmental Glomerulosclerosis Medicine & Life Sciences
Cisplatin Medicine & Life Sciences

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Research Output 1997 2019

  • 1427 Citations
  • 18 h-Index
  • 42 Article
  • 3 Chapter
  • 1 Letter
Genetic Counseling

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 2019, In : Annals of Human Genetics.

Research output: Contribution to journalArticle

Open Access
Mutation
Exons
Nucleotides
Alleles
Messenger RNA
3 Citations (Scopus)

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

Autosomal Recessive Polycystic Kidney
Genetic Testing
Mutation
Point Mutation
Exons