Publications
- Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy2021 | First Faculty of Medicine
- Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient2020 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study2020 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency2008 | First Faculty of Medicine
- Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | First Faculty of Medicine, Centre for Knowledge and Technology Transfer
- Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease2022 | First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
Loading network view...