Publications
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | Second Faculty of Medicine
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | Second Faculty of Medicine
- Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism2008 | Second Faculty of Medicine
- Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman2005 | Second Faculty of Medicine
- Genetic Study of Twenty Patients with Autism Spectrum Disorders2002 | Second Faculty of Medicine
- Detection of Deletions and Uniparental Disomies in prade-Willi and Angelman Syndromes - Methodical and Interpretational Aspects2000 | Second Faculty of Medicine, Central Library of Charles University
- Detection of deletions and uniparental disomies in Prader-Willi and Angelman syndromes - methodical and interpretational aspects2000 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
- Trinucleotide Repeat Expansions and Human Genetic Disease1995 | Second Faculty of Medicine, Central Library of Charles University
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
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