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generation Z
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Ing. Lenka Piherová Ph.D.
External person at First Faculty of Medicine
27 publications
Publications
publication
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
2021 |
First Faculty of Medicine
publication
Genetic causes of sudden infant death syndrome in the era of next generation sequencing. Review
2020 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates
2019 |
First Faculty of Medicine
publication
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
2016 |
First Faculty of Medicine
publication
Mutations in ANTXR1 Cause GAPO Syndrome
2013 |
First Faculty of Medicine
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
Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022
2023 |
First Faculty of Medicine, Centre for Knowledge and Technology Transfer
publication
Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease
2022 |
First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
2021 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Diagnostic methods in cardiovascular diseases
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Medicine in Pilsen
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