Publications
- 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, Third Faculty of Medicine, Central Library of Charles University
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Association of human aging with a functional variant of Klotho2002 | Second Faculty of Medicine
- Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe2000 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Increased frequency of deltaF508 mutation carriers in men with non-obstructive azoospermia1999 | Second Faculty of Medicine
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%1997 | Second Faculty of Medicine
- Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival1997 | Second Faculty of Medicine
- SCA2 trinucleotide expansion in German SCA patients1997 | Second Faculty of Medicine
- SCA6 is caused by moderate CAG expansion in the alpha(1A)-voltage-dependent calcium channel gene1997 | Second Faculty of Medicine
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