Publications
- Polygenic burden in focal and generalized epilepsies2019 | Second Faculty of Medicine
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | First Faculty of Medicine, Second Faculty of Medicine
- Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers2018 | Second Faculty of Medicine
- Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases2012 | Second Faculty of Medicine
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- An inherited 2q13 deletion in a patient with Marfan syndromePublication without faculty affiliation
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
Loading network view...
