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PATIENT
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Ing. Bohumila Janošíková
External person at First Faculty of Medicine
20 publications
Publications
publication
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
2019 |
First Faculty of Medicine
publication
Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease
2003 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Methionine-loading test: evaluation of adverse effects and safety in an epidemiological study
2002 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
2001 |
First Faculty of Medicine
publication
Variant alleles in methionine cycle: association study in patients with coronary artery disease (CAD) (1)
Publication without faculty affiliation
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
Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias
2012 |
First Faculty of Medicine
publication
Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population
2012 |
First Faculty of Medicine
publication
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene
2009 |
First Faculty of Medicine
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