ℹ️
🇨🇿
Hledání
Hledat osoby relevantní k dotazu "Exome"
Exome
Osoba
Předměty
Osoby
Publikace
Studium
MUDr. Katalin Štěrbová
Akademický pracovník na 2. lékařská fakulta
74 publikací
Publikace
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
2. lékařská fakulta
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
2. lékařská fakulta
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
2. lékařská fakulta
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
2. lékařská fakulta
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
2. lékařská fakulta
publication
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
2018 |
2. lékařská fakulta
publication
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
2017 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
2016 |
2. lékařská fakulta
publication
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
2016 |
2. lékařská fakulta
publication
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
2014 |
2. lékařská fakulta
Načíst další publikace (64)
Loading network view...