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heteroplasmy
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publication
Influence on mitochondrial networks and heteroplasmy of mtDNA mutation with doxycycline
Publikace bez příslušnosti k fakultě
publication
Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods
2020 |
2. lékařská fakulta
publication
Changes in heteroplasmy of mtDNA mutations A3234G and A8344G in fibroblasts during cultivation with ethidium bromide
Publikace bez příslušnosti k fakultě
publication
Heteroplasmy of mtDNA mutations A3243G and A8344G in 29 patients with MELAS and MERRF syndrome
Publikace bez příslušnosti k fakultě
publication
Altered properties of mitochondrial ATP-synthase in patients with a T --> G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
1995 |
1. lékařská fakulta
publication
A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome
2022 |
1. lékařská fakulta
publication
The phenotypic spectrum of fifty Czech m.3243A > G carriers
2016 |
1. lékařská fakulta
publication
Mitochondria in Human Reproduction: Novel Paradigm in the Onset of Neurodegenerative Disorders
2023 |
Lékařská fakulta v Plzni
publication
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021 |
2. lékařská fakulta
publication
Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
2013 |
1. lékařská fakulta, 2. lékařská fakulta
publication
The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors
2021 |
2. lékařská fakulta
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
1. lékařská fakulta
publication
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
2020 |
1. lékařská fakulta, 2. lékařská fakulta