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endometrial cancer
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Kamila Vinšová
Person without affiliation with CUNI
13 publications
Publications
publication
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
2020 |
First Faculty of Medicine
publication
Sideroblastic anemia associated with multisystem mitochondrial disorders
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease
2019 |
First 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
Different laboratory and muscle biopsy findings in a family with an m.8851T > C mutation in the mitochondrial MTATP6 gene
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation
2012 |
First Faculty of Medicine
publication
Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene
2011 |
First Faculty of Medicine
publication
Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNA(Ser(UCN)) Gene - Case Reports
2010 |
Faculty of Science, Faculty of Physical Education and Sport, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
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