• 1412 Citations
  • 18 h-Index
1977 …2018
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Fingerprint Dive into the research topics where V. Karcagi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Mutation Medicine & Life Sciences
Congenital Myasthenic Syndromes Medicine & Life Sciences
Roma Medicine & Life Sciences
Genes Medicine & Life Sciences
Hungary Medicine & Life Sciences
Spinal Muscular Atrophy Medicine & Life Sciences
Duchenne Muscular Dystrophy Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences

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Research Output 1977 2018

  • 1412 Citations
  • 18 h-Index
  • 53 Article

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

Beke, A., Piko, H., Haltrich, I., Karcagi, V., Rigó, J., Molnar, M. J. & Fekete, G., Jul 9 2018, In : BMC Medical Genetics. 19, 1, 113.

Research output: Contribution to journalArticle

Primary Ovarian Insufficiency
Inheritance Patterns
Alleles
Mothers
Genetic Testing
1 Citation (Scopus)

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Jávorszky, E., Morinière, V., Kerti, A., Balogh, E., Pikó, H., Saunier, S., Karcagi, V., Antignac, C. & Tory, K., Jun 1 2017, In : Clinical Chemistry and Laboratory Medicine. 55, 6, p. 809-816 8 p.

Research output: Contribution to journalArticle

Multiplex Polymerase Chain Reaction
Exons
Amplification
Chronic Kidney Failure
Genes
19 Citations (Scopus)

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Vry, J., Gramsch, K., Rodger, S., Thompson, R., Steffensen, B. F., Rahbek, J., Doerken, S., Tassoni, A., Beytía, M. D. L. A., Guergueltcheva, V., Chamova, T., Tournev, I., Kostera-Pruszczyk, A., Kaminska, A., Lusakowska, A., Mrazova, L., Pavlovska, L., Strenkova, J., Vondráček, P., Garami, M. & 5 others, Karcagi, V., Herczegfalvi, Á., Bushby, K., Lochmüller, H. & Kirschner, J., Jan 1 2016, In : Journal of Neuromuscular Diseases. 3, 4, p. 517-527 11 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Cross-Sectional Studies
Guidelines
Adrenal Cortex Hormones
Self Report