List of works - Jan Radvanszky

Cell-Free Nucleic Acids and their Emerging Role in the Pathogenesis and Clinical Management of Inflammatory Bowel Disease

scientific article published on 26 July 2019

Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing

scientific article published on 14 August 2019

Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis.

scientific article

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

scientific article published on 25 July 2016

Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants.

scientific article

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing

scientific article published on 01 March 2011

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

scientific article published on 06 January 2021

High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism.

scientific article

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

scientific article

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

scientific article published on 07 September 2019

In silico and experimental evaluation of DNA-based detection methods for the ability to discriminate almond from other Prunus spp.

scientific article published on 5 December 2014

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

scientific article published in December 2011

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection

scientific article published on 5 April 2016

Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.

scientific article

Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes

scientific article published on 16 November 2020

The expanding world of myotonic dystrophies: how can they be detected?

scientific article published on 12 October 2010

The origin of the giant liver fluke, Fascioloides magna (Trematoda: Fasciolidae) from Croatia determined by high-resolution melting screening of mitochondrial cox1 haplotypes.

scientific article published on 23 April 2013

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

scientific article published on 25 March 2015

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus

scientific article published on 02 April 2013

Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.

scientific article

List of works by Jan Radvanszky

Cell-Free Nucleic Acids and their Emerging Role in the Pathogenesis and Clinical Management of Inflammatory Bowel Disease

Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing

Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis.

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants.

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing

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

High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism.

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

In silico and experimental evaluation of DNA-based detection methods for the ability to discriminate almond from other Prunus spp.

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection

Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.

Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes

The expanding world of myotonic dystrophies: how can they be detected?

The origin of the giant liver fluke, Fascioloides magna (Trematoda: Fasciolidae) from Croatia determined by high-resolution melting screening of mitochondrial cox1 haplotypes.

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

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus

Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.