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Publikace
Studium
MUDr. Markéta Vlčková Ph.D.
Akademický pracovník na 2. lékařská fakulta
72 publikací
Publikace
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
2. lékařská fakulta
publication
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
2018 |
2. lékařská fakulta
publication
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
2018 |
2. lékařská fakulta
publication
Genetické příčiny epilepsií
2018 |
2. lékařská fakulta
publication
Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families
2018 |
2. lékařská fakulta
publication
A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy
2024 |
2. lékařská fakulta, Ústřední knihovna
publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
2. lékařská fakulta
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
2. lékařská fakulta
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
2. lékařská fakulta