Publikace
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | 1. lékařská fakulta
- Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes2003 | 1. lékařská fakulta
- Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application2023 | 1. lékařská fakulta
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 1. lékařská fakulta
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | 1. lékařská fakulta
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | 1. lékařská fakulta
- Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity2021 | 1. lékařská fakulta
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene2020 | 1. lékařská fakulta
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation2020 | 1. lékařská fakulta
- Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer2019 | 1. lékařská fakulta
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