Ján Radvánszky

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Genetic Disorder, Alkaptonuria Patients, Genetics +8

Copy Number Variation: Methods and Clinical Applications

Ondrej Pös, Ján Radvánszky, Jakub Styk et al. · Applied Sciences · 2021 · 53 citations · Full text

Engineering, Genetics, Pathology +19

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

Marcel Kucharík, Andrej Gnip, Michaela Hýblová et al. · PLoS ONE · 2020 · 47 citations · Full text

Genetic Testing, Fetal Fractions, Genetics +27

Extracellular DNA Correlates with Intestinal Inflammation in Chemically Induced Colitis in Mice

Martin Marônek, Barbora Gromová, Róbert Lipták et al. · Cells · 2021 · 41 citations · Full text

Chronic Inflammatory Diseases, Intestinal Inflammation, Immunology +17

Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness

Emil Polák, Andrej Ficek, Ján Radvánszky et al. · Gene · 2013 · 36 citations

Biochemistry, Genetic Disorder, Medicine +7