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novel variant
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Jitka Sokolová
External person at First Faculty of Medicine
35 publications
Publications
publication
Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome
2016 |
First Faculty of Medicine
publication
High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction
2015 |
First Faculty of Medicine
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine
publication
Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population
2012 |
First Faculty of Medicine
publication
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
2012 |
First Faculty of Medicine
publication
Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
2010 |
First Faculty of Medicine
publication
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
1997 |
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
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
2023 |
First Faculty of Medicine
publication
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
2022 |
First Faculty of Medicine, Faculty of Science
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