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novel mutations
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RNDr. Daniela Záhoráková
External person at First Faculty of Medicine
34 publications
Publications
publication
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases
2016 |
First Faculty of Medicine
publication
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning
2016 |
First Faculty of Medicine
publication
Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease
2014 |
First Faculty of Medicine
publication
Wilson Disease
2013 |
First Faculty of Medicine
publication
Rett syndrome
2013 |
First Faculty of Medicine
publication
APOE epsilon 4: a potential modulation factor in Rett syndrome
2010 |
First Faculty of Medicine
publication
Rett Syndrome
2009 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
First Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Faculty of Physical Education and Sport
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