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De Novo
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MUDr. Markéta Vlčková Ph.D.
Academic staff at Second Faculty of Medicine
72 publications
Publications
publication
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Central Library of Charles University
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
Second Faculty of Medicine
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
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
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
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
2018 |
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
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