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neonatal screening
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prof. MUDr. Robert Jech Ph.D.
Academic staff at First Faculty of Medicine
3 classes
388 publications
Classes
class
Neurosciences
B00828 |
First Faculty of Medicine
class
Case Study Seminar 2
B03368 |
First Faculty of Medicine
class
Project, Grant Management and Professional Publication
B03369 |
First Faculty of Medicine
Publications
publication
Cortical and subcortical morphometric changes and their relation to cognitive impairment in isolated REM sleep behavior disorder
2024 |
First Faculty of Medicine
publication
SOXopathies and dystonia: Consolidation of a recurrent association
2024 |
First Faculty of Medicine
publication
Central European Group on Genetics of Movement Disorders
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Expiratory Muscle Strength Training in Multiple System Atrophy: A Pilot Study
2023 |
First Faculty of Medicine
publication
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
2023 |
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
Episignature analysis of moderate effects and mosaics
2023 |
First Faculty of Medicine
publication
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy
2023 |
First Faculty of Medicine
publication
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
2023 |
First Faculty of Medicine
publication
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction
2023 |
First Faculty of Medicine
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