Publications
- A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio-based exome sequencing: A case report2023 | Second Faculty of Medicine
- Performance of Targeted Library Preparation Solutions for SARS-CoV-2 Whole Genome Analysis2020 | Second Faculty of Medicine, Faculty of Science
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders2024 | Second Faculty of Medicine
- Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?2023 | Second Faculty of Medicine, Central Library of Charles University, Faculty of Physical Education and Sport, First Faculty of Medicine, Third Faculty of Medicine
- Unusual case of inflammatory rhabdomyoblastic tumor in a pediatric patient2023 | Second Faculty of Medicine, Central Library of Charles University
- Speed and power-related gene polymorphisms associated with playing position in elite soccer players2022 | Second Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport
- Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas2022 | Second Faculty of Medicine, Central Library of Charles University
- Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development2022 | Second Faculty of Medicine
- Next generation sequencing - a science tool or routine pathology?2021 | Second Faculty of Medicine, Central Library of Charles University
- Novel ZEB2-PLAG1 fusion gene identified by RNA sequencing in a case of lipoblastoma2021 | Second Faculty of Medicine
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