Publications
- Genetics of spinal muscular atrophy2020 | 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
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Point mutations in Czech DMD/BMD patients and their phenotypic outcome2009 | Second Faculty of Medicine
- Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q2008 | Second Faculty of Medicine
- Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy2007 | Second Faculty of Medicine
- The SCN1A gene analysis in patients with Febrile seizures2006 | Second Faculty of Medicine
- Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening2005 | Second Faculty of Medicine
- Localized mosaic neurofibromatosis type 12022 | Second Faculty of Medicine
- Spinal muscular atrophy in childhood - actual treatment options2022 | Second Faculty of Medicine
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