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complex rearrangements
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RNDr. Kateřina Hirschfeldová Ph.D.
Academic staff at First Faculty of Medicine
32 publications
Publications
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
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
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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