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Sequencing
Person
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Person
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RNDr. Veronika Elišáková Ph.D.
Academic staff at First Faculty of Medicine
6 publications
Publications
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
First Faculty of Medicine
publication
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
2014 |
First Faculty of Medicine
publication
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report
2018 |
First Faculty of Medicine
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
First Faculty of Medicine
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