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MUDr. Markéta Vlčková Ph.D.
Akademický pracovník na 2. lékařská fakulta
72 publikací
Publikace
publication
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
2021 |
2. lékařská fakulta
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
2. lékařská fakulta
publication
Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members
2020 |
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
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
publication
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
2023 |
2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni, 3. lékařská fakulta
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
1. lékařská fakulta, 2. lékařská fakulta
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