Bacteria in gene therapy: bactofection versus alternative gene therapy R Palffy, R Gardlik, J Hodosy, M Behuliak, P Reško, J Radvánský, P Celec Gene Therapy 13 (2), 101-105, 2006 | 131 | 2006 |
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects O Pös, J Radvanszky, G Buglyó, Z Pös, D Rusnakova, B Nagy, T Szemes biomedical journal 44 (5), 548-559, 2021 | 126 | 2021 |
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’in Italy M Nemethova, J Radvanszky, L Kadasi, DB Ascher, DEV Pires, ... European Journal of Human Genetics 24 (1), 66-72, 2016 | 108 | 2016 |
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database A Zatkova, T Sedlackova, J Radvansky, H Polakova, M Nemethova, ... JIMD Reports-Case and Research Reports, 2012/1, 55-65, 2011 | 67 | 2011 |
Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing J Radvansky, A Ficek, G Minarik, R Palffy, L Kadasi Diagnostic Molecular Pathology 20 (1), 48-51, 2011 | 55 | 2011 |
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness E Polak, A Ficek, J Radvanszky, A Soltysova, O Urge, E Cmelova, ... Gene 526 (2), 347-355, 2013 | 49 | 2013 |
Copy number variation: methods and clinical applications O Pös, J Radvanszky, J Styk, Z Pös, G Buglyó, M Kajsik, J Budis, B Nagy, ... Applied Sciences 11 (2), 819, 2021 | 42 | 2021 |
Technical and methodological aspects of cell-free nucleic acids analyzes Z Pös, O Pös, J Styk, A Mocova, L Strieskova, J Budis, L Kadasi, ... International Journal of Molecular Sciences 21 (22), 8634, 2020 | 39 | 2020 |
Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis J Radvanszky, M Surovy, E Nagyova, G Minarik, L Kadasi Clinical biochemistry 48 (9), 609-616, 2015 | 39 | 2015 |
Cell-free nucleic acids and their emerging role in the pathogenesis and clinical management of inflammatory bowel disease Z Kubiritova, J Radvanszky, R Gardlik International Journal of Molecular Sciences 20 (15), 3662, 2019 | 38 | 2019 |
Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome J Radvanszky, M Hyblova, D Durovcikova, M Hikkelova, E Fiedler, ... Clinical Genetics 91 (2), 339-343, 2017 | 33 | 2017 |
Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs J Radvansky, A Ficek, L Kadasi Molecular and Cellular Probes 25 (4), 182-185, 2011 | 32 | 2011 |
Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants J Radvánský, E Bazsalovicsová, I Králová-Hromadová, G Minárik, ... Parasitology Research 108, 201-209, 2011 | 32 | 2011 |
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions M Kucharik, A Gnip, M Hyblova, J Budis, L Strieskova, M Harsanyova, ... PLoS One 15 (8), e0238245, 2020 | 31 | 2020 |
Extracellular DNA correlates with intestinal inflammation in chemically induced colitis in mice M Maronek, B Gromova, R Liptak, B Konecna, M Pastorek, B Cechova, ... Cells 10 (1), 81, 2021 | 24 | 2021 |
Identification of structural variation from NGS-based non-invasive prenatal testing O Pös, J Budis, Z Kubiritova, M Kucharik, F Duris, J Radvanszky, ... International journal of molecular sciences 20 (18), 4403, 2019 | 24 | 2019 |
Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus J Radvanszky, M Surovy, E Polak, L Kadasi Neuromuscular Disorders 23 (7), 591-598, 2013 | 22 | 2013 |
Non-invasive prenatal testing as a valuable source of population specific allelic frequencies J Budis, J Gazdarica, J Radvanszky, M Harsanyova, I Gazdaricova, ... Journal of biotechnology 299, 72-78, 2019 | 20 | 2019 |
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism J Radvansky, P Resko, M Surovy, G Minarik, A Ficek, L Kadasi Analytical biochemistry 398 (1), 126-128, 2010 | 20 | 2010 |
The expanding world of myotonic dystrophies: how can they be detected? J Radvansky, L Kadasi Genetic Testing and Molecular Biomarkers 14 (6), 733-741, 2010 | 19 | 2010 |