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mendelian disease
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MUDr. Petra Havránková Ph.D.
Academic staff at First Faculty of Medicine
68 publications
Publications
publication
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
2018 |
First Faculty of Medicine
publication
SOXopathies and dystonia: Consolidation of a recurrent association
2024 |
First Faculty of Medicine
publication
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
2023 |
First Faculty of Medicine
publication
Effect of Intra-arrest Transport, Extracorporeal Cardiopulmonary Resuscitation, and Immediate Invasive Assessment and Treatment on Functional Neurologic Outcome in Refractory Out-of-Hospital Cardiac Arrest: A Randomized Clinical Trial
2022 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Mathematics and Physics
publication
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
2022 |
First Faculty of Medicine
publication
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
2022 |
First Faculty of Medicine
publication
Restoration of functional network state towards more physiological condition as the correlate of clinical effects of pallidal deep brain stimulation in dystonia
2022 |
First Faculty of Medicine
publication
Atypical presentations of DYT1 dystonia with acute craniocervical onset
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
2021 |
First Faculty of Medicine
publication
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
2021 |
First Faculty of Medicine
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