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Mosaicism
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MUDr. Markéta Vlčková Ph.D.
Academic staff at Second Faculty of Medicine
72 publications
Publications
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 |
Second Faculty of Medicine
publication
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers
2018 |
Second Faculty of Medicine
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
2012 |
Second Faculty of Medicine
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
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
2023 |
Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
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