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targeted resequencing
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017 |
Second Faculty of Medicine
publication
Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis
2019 |
First Faculty of Medicine
publication
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
2014 |
Second Faculty of Medicine
publication
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
2015 |
Second Faculty of Medicine
publication
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
2018 |
First Faculty of Medicine
publication
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study
2015 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
2017 |
Second Faculty of Medicine, Central Library of Charles University