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Jan Radvanszky
Jan Radvanszky
Institute for Clinical and Translational Research, Biom. Res. Cent., Slovak Academy of Sciences
Overená e-mailová adresa na: savba.sk
Názov
Citované v
Citované v
Rok
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
1312006
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
1262021
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
1082016
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
672011
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
552011
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
492013
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
422021
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
392020
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
392015
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
382019
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
332017
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
322011
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
322011
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
312020
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
242021
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
242019
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
222013
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
202019
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
202010
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
192010
Systém momentálne nemôže vykonať operáciu. Skúste to neskôr.
Články 1–20