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Method validation
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RNDr. Petra Peldová Ph.D.
External person at Second Faculty of Medicine
22 publications
Publications
publication
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
2009 |
Second Faculty of Medicine
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
publication
Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
PRKAG2 syndrome as a highly arrhythmogenic eventuality in the differential diagnosis of hypertrophic cardiomyopathy - an example of two families with a confirmed causative DNA variant
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review
2023 |
Second Faculty of Medicine
publication
Outcomes of a multicenter study of the causes of sudden cardiac death (SCD) in the Czech Republic and primary prevention of cardiac arrest in relatives
2022 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment-a case report with a review of risk stratification and disease management of laminopathies
2022 |
Second Faculty of Medicine, Central Library of Charles University
publication
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
2022 |
Second Faculty of Medicine, Central Library of Charles University
publication
Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing
2020 |
Second Faculty of Medicine, Central Library of Charles University
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