Publications
- Spinal muscular atrophy - diagnostics, therapy, research +12016 | Second Faculty of Medicine
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | Second Faculty of Medicine
- Point mutations in Czech DMD/BMD patients and their phenotypic outcome2009 | Second Faculty of Medicine
- Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy2007 | Second Faculty of Medicine
- A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration2006 | Second Faculty of Medicine
- The SCN1A gene analysis in patients with Febrile seizures2006 | Second Faculty of Medicine
- Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations2005 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening2005 | Second Faculty of Medicine
- A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumours2003 | Second Faculty of Medicine
- Molecular etiopathogenesis of spinal muscular atrophy2002 | Second Faculty of Medicine
Loading network view...