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phenylketonuria
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MUDr. Veronika Zoubková
External person at Second Faculty of Medicine
11 publications
Publications
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine, 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 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood
2023 |
Second Faculty of Medicine, Third 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 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Natural history of KBG syndrome in a large European cohort
2022 |
Second Faculty of Medicine
publication
Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing
2020 |
Second Faculty of Medicine, Central Library of Charles University
publication
Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor
2020 |
Second Faculty of Medicine
publication
Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families
2018 |
Second Faculty of Medicine
publication
The role of genetics in early postnatal care with a focus on VVV
2017 |
Second Faculty of Medicine
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