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De Novo
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doc. MUDr. Petra Laššuthová Ph.D.
Academic staff at Second Faculty of Medicine
62 publications
Publications
publication
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
Second Faculty of Medicine
publication
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2019 |
Second Faculty of Medicine
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
Second Faculty of Medicine
publication
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
2019 |
Second Faculty of Medicine
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
Second Faculty of Medicine
publication
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
2018 |
Second Faculty of Medicine
publication
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond
2018 |
Second Faculty of Medicine
publication
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient
2017 |
Second Faculty of Medicine
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