Andrea Zatkova
Bratislava, BL, Slovakia
Last Updated: 09/26/2026
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Found 27 publications
Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.
Journal: Molecular and cellular probes
Published: December 05, 2024
High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing.
Journal: Analytical biochemistry
Published: October 02, 2024
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Journal: The Indian journal of medical research
Published: September 09, 2023
Nutritional interventions for patients with alkaptonuria: A minireview.
Journal: Endocrine regulations
Published: March 26, 2023
Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.
Journal: Scientific reports
Published: February 10, 2023
Analysis of the Phenotype Differences in Siblings with Alkaptonuria.
Journal: Metabolites
Published: September 26, 2022
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone.
Journal: RMD open
Published: April 24, 2022
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients.
Journal: European journal of human genetics : EJHG
Published: August 24, 2021
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Journal: The lancet. Diabetes & endocrinology
Published: March 12, 2020
Last Updated: 09/26/2026