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Autosomal
Person
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Person
Publication
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MUDr. Ivana Perníková
Academic staff at Second Faculty of Medicine
10 publications
Publications
publication
Congenital muscular dystrophy with complete defect of merosine - First two cases confirmed in the Czech Republic - Typical phenotype and evidence based on skin biopsy
2002 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth gonosomal dominant type (CMTX1) - First findings of mutations in the gene for connexin 32 in the Czech Republic
2000 |
Second Faculty of Medicine
publication
Survival and functional outcomes in paediatric thalamic and thalamopeduncular low grade gliomas
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Integrated genomic analysis reveals actionable targets in pediatric spinal cord low-grade gliomas
2022 |
Central Library of Charles University, Second Faculty of Medicine
publication
Basics of pediatric neurology
2021 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Older age is a protective factor for academic achievements irrespective of treatment modalities for posterior fossa brain tumours in children
2020 |
Second Faculty of Medicine
publication
Peripheral neuropathy in children
2018 |
Second Faculty of Medicine
publication
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome
2017 |
Second Faculty of Medicine
publication
Gabapentin in the Treatment of Neuropathie Pain in Children with Solid Tumors and Hematological Malignancies
2002 |
Central Library of Charles University, Second Faculty of Medicine
publication
Cerebral tumour and epilepsy
2001 |
Central Library of Charles University, Second Faculty of Medicine
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