Publications
- Localized mosaic neurofibromatosis type 12022 | Second Faculty of Medicine
- Genetics of spinal muscular atrophy2020 | Second Faculty of Medicine
- Spinal muscular atrophy in childhood - actual treatment options2022 | Second Faculty of Medicine
- Spinal muscular atrophy - actual situation and future steps2021 | Second Faculty of Medicine
- Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies - a study from a single neuromuscular centre2020 | Second Faculty of Medicine
- 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
- 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
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