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RNDr. Kateřina Hirschfeldová Ph.D.
Academic staff at First Faculty of Medicine
32 publications
Publications
publication
5. Sequencing
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
First Faculty of Medicine
publication
Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia
2021 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University
publication
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
2019 |
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
Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization
2017 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample
2017 |
Faculty of Science, First Faculty of Medicine
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients
+1
2014 |
Faculty of Science, First Faculty of Medicine
publication
Tobacco dependence - epidemiology, prevention and treatment
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
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