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Search for publications relevant for "DNA mutation"
DNA mutation
Publication
Class
Person
Publication
Programmes
publication
The temperature gradient gel electrophoresis and its use for the DNA mutational analysis
Publication without faculty affiliation
publication
Mitochondrial DNA mutations in patients with encephalopathy and hypertrophic cardiomyopathy
+1
Publication without faculty affiliation
publication
Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male
2012 |
First Faculty of Medicine
publication
A rear cause of blindness in a patient with nasal polyposis. Leber's hereditary optic atrophy of visual nerve
2011 |
Publication without faculty affiliation
publication
Impact of clinical and molecular factors on the estimation of colorectal adenomatous polyps recurrence in long-term clinical follow-up patients
2013 |
First Faculty of Medicine
publication
Spontaneous DNA mutations included by proton transfer in the guanine-cytosine base pair. An energetic perspective
1996 |
Faculty of Mathematics and Physics
publication
Options for testing DNA mutations and DNA methylation assays of circulating cell-free DNA isolated from peripheral blood of NSCLC patients
2012 |
Publication without faculty affiliation
publication
Application of denaturing capillary electrophoresis for the detection of prognostic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes in brain tumors
2018 |
First Faculty of Medicine, Faculty of Science
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
Utility of Cell-free Tumour DNA for Post-surgical Follow-up of Colorectal Cancer Patients
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
Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints
2018 |
Central Library of Charles University
publication
Quantum dot-based forster resonace energy transfer bioanalysis
2014 |
Faculty of Science
publication
Profiles of somatic mutations in tissue of IBD and IBD-associated carcinomas revealed by a targeted next-generation sequencing (NGS) tumour panel confirm notable differences from sporadic colorectal carcinomas
Publication without faculty affiliation
publication
New alternatives and approaches in the treatment of advanced non-small cell lung cancer
2015 |
Faculty of Medicine in Pilsen
publication
Mitochondrial diabetes in common clinical practice
2020 |
Third Faculty of Medicine
publication
Multiple Roles of Mitochondria in Aging Processes
2016 |
Faculty of Medicine in Pilsen
publication
Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Rare cause of blindness in patient with nasal polyposis: Lebers hereditary neuropathy of the optic nerve
2011 |
First Faculty of Medicine
publication
Molecular mechanisms and signaling pathways in pancreatic carcinoma
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mitochondrial Dysfunctions in Bipolar Disorder: Effect of the Disease and Pharmacotherapy
2017 |
First Faculty of Medicine
publication
Leber's Hereditary Optic Neuropathy with Oligoclonal Bands in the Serum Regarded as Multiple Sclerosis - a Case Report
2009 |
Central Library of Charles University, Third Faculty of Medicine
publication
Hemoglobin and its Function in 3D
2020 |
Faculty of Science
publication
The red thread between methylation and mutation in bacterial antibiotic resistance: How third-generation sequencing can help to unravel this relationship
2022 |
Faculty of Medicine in Pilsen
publication
Circulating tumor DNA in Hodgkin lymphoma
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
High-resolution melting analysis for detection of MYH9 mutations
2008 |
Second Faculty of Medicine
publication
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome
1994 |
Central Library of Charles University
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
First Faculty of Medicine
publication
Revisiting mitochondrial diagnostic criteria in the new era of genomics
2018 |
First Faculty of Medicine