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MUDr. Markéta Vlčková Ph.D.
Academic staff at Second Faculty of Medicine
72 publications
Publications
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Central Library of Charles University
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
Second Faculty of Medicine
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
Polygenic burden in focal and generalized epilepsies
2019 |
Second Faculty of Medicine
publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
2018 |
Second Faculty of Medicine
publication
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
2018 |
Second Faculty of Medicine
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
Second Faculty of Medicine
publication
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
2014 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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