Publications
- Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome2020 | Second Faculty of Medicine
- Children and young adults with spinal muscular atrophy treated with nusinersen2021 | 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
- New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy2020 | Second Faculty of Medicine
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- 238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathy Hoofddorp, The Netherlands, 30 November-2 December 20182019 | Second Faculty of Medicine
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