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MUDr. Markéta Vlčková Ph.D.
Academic staff at Second Faculty of Medicine
72 publications
Publications
publication
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
2020 |
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
publication
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
CNVs in patients with epilepsy - Czech experience
Publication without faculty affiliation
publication
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
2024 |
Second Faculty of Medicine, Central Library of Charles University
publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
Second Faculty of Medicine
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
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