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Next-generation sequencing
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RNDr. Veronika Elišáková Ph.D.
Akademický pracovník na 1. lékařská fakulta
6 publikací
Publikace
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
1. lékařská fakulta
publication
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
2015 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report
2018 |
1. lékařská fakulta
publication
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
2014 |
1. lékařská fakulta
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
1. lékařská fakulta
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