Publikace
- Children and young adults with spinal muscular atrophy treated with nusinersen2021 | 2. lékařská fakulta
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | 2. lékařská fakulta
- Charakteristika souboru chlapců s Duchennovou a Beckerovou svalovou dystrofií - studie z jednoho nervosvalového centra2020 | 2. lékařská fakulta
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020 | 2. lékařská fakulta
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- 238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathy Hoofddorp, The Netherlands, 30 November-2 December 20182019 | 2. lékařská fakulta
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