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MUDr. Markéta Vlčková Ph.D.
Academic staff at Second Faculty of Medicine
72 publications
Publications
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
Second Faculty of Medicine
publication
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
2019 |
Second Faculty of Medicine
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
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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