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gene-A
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Ing. Markéta Tesařová Ph.D.
Academic staff at First Faculty of Medicine
194 publications
Publications
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 TAZ Gene in Patients with Barth Syndrome
2013 |
First Faculty of Medicine
publication
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids
2013 |
First Faculty of Medicine
publication
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
2012 |
First Faculty of Medicine
publication
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
2012 |
First 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
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
2012 |
First Faculty of Medicine
publication
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis
2012 |
First Faculty of Medicine
publication
Large Proteoglycan Complexes and Disturbed Collagen Architecture in the Corneal Extracellular Matrix of Mucopolysaccharidosis Type VII (Sly Syndrome)
2011 |
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
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