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methods of diagnostics
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Ing. Lenka Piherová Ph.D.
External person at First Faculty of Medicine
27 publications
Publications
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
publication
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
2021 |
First Faculty of Medicine
publication
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
2021 |
First Faculty of Medicine
publication
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
2020 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
2020 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
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