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mutations
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RNDr. Lucie Schwarzová Ph.D.
Academic staff at First Faculty of Medicine
25 publications
Publications
publication
Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon
2019 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Central Library of Charles University
publication
Molecular Genetic Background of an Autosomal Dominant Hypercholesterolemia in the Czech Republic
2017 |
First Faculty of Medicine
publication
Molecular genetics of hypercholesterolemia
2016 |
First Faculty of Medicine
publication
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
2015 |
First Faculty of Medicine
publication
Genetic Predisposition of Human Plasma Triglyceride Concentrations
2015 |
First Faculty of Medicine
publication
Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome
2014 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Familial hypercholesterolemia is still unknown?
2014 |
First Faculty of Medicine
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
publication
The Gene Score for Predicting Hypertriglyceridemia: New Insights from a Czech Case-Control Study
2019 |
First Faculty of Medicine
publication
MedPed - the reality of familial hypercholesterolemia care at the biggest center
2018 |
First Faculty of Medicine
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