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Leigh syndrome
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Vendula Kučerová Vidrová
External person at First Faculty of Medicine
6 publications
Publications
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T > C in MTND5
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature
2017 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
2017 |
First Faculty of Medicine
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
First Faculty of Medicine
publication
Mitochondrial DNA haplogroups in the Czech population compared to other European countries
2008 |
First Faculty of Medicine
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