• 1430 Citations
  • 18 h-Index
1977 …2019
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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.

  • 2 Similar Profiles
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
Phenotype Medicine & Life Sciences

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Research Output 1977 2019

  • 1430 Citations
  • 18 h-Index
  • 55 Article

Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family

Pinti, E., Piko, H., Lengyel, A., Luczay, A., Karcagi, V., Fekete, G. & Haltrich, I., Jan 1 2019, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

XX Disorders of Sex Development 46
Siblings
Phenotype
Fathers
46, XX Testicular Disorders of Sex Development

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