Classes
Publications
- Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis2013 | First Faculty of Medicine
- Developmental programming of growth: Genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination2013 | First Faculty of Medicine
- The Cysteine Dioxgenase Knockout Mouse: Altered Cysteine Metabolism in Nonhepatic Tissues Leads to Excess H2S/HS- Production and Evidence of Pancreatic and Lung Toxicity2013 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Novel Polymorphic AluYb8 Insertion in the WNK1 Gene is Associated with Blood Pressure Variation in Europeans2011 | First Faculty of Medicine
- The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria2010 | First Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment2010 | First Faculty of Medicine
- Ancient origin of the CTH alelle carrying the c. 200C > T (p.T67I) variant in patients with cystathioninuria2010 | First Faculty of Medicine
- Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits2010 | First Faculty of Medicine
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