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triplet repeat
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CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
2019 |
First Faculty of Medicine
publication
CRISPR/Cas9-targeted anrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
2019 |
First Faculty of Medicine
publication
MR relaxometry in Huntington's disease: Correlation between imaging, genetic and clinical parameters
2007 |
First Faculty of Medicine, Central Library of Charles University
publication
The possibilities of molecular-genetic diagnostics of myotonic dystrophy type 1
2004 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
2009 |
Second Faculty of Medicine
publication
Activities of respiratory chain complexes in isolated platelets in 18 patients with Huntington's disease
2005 |
First Faculty of Medicine
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Huntington's Disease
2010 |
First Faculty of Medicine
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Spinocerebellar Ataxia 6 - a Case Report
2015 |
Faculty of Medicine in Pilsen
publication
Spinocerebellar Ataxia 7 - a Case Report
2013 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Comparative genomics of the social amoebae Dictyostelium discoideum and Dictyostelium purpureum
2011 |
Faculty of Science
publication
Psychopathology of Huntington's disease: clinical summary
2003 |
First Faculty of Medicine
publication
DNA diagnostics of Friedrich's ataxia
1997 |
Second Faculty of Medicine
publication
An Electrophysiological Study of Visual Processing in Spinocerebellar Ataxia Type 2 (SCA2)
2011 |
Second Faculty of Medicine
publication
Juvenile form of Huntington's disease
2012 |
First Faculty of Medicine
publication
Is retina affected in Huntington's disease? Is optical coherence tomography a good biomarker?
2023 |
First Faculty of Medicine