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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
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
2020 |
1. lékařská fakulta, 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
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
2. lékařská fakulta
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
2. lékařská fakulta
publication
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
2019 |
2. lékařská fakulta
publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
1. lékařská fakulta, 2. lékařská fakulta
publication
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature
2018 |
2. lékařská fakulta
publication
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
2018 |
2. lékařská fakulta
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