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RNDr. Jana Neupauerová Ph.D.
Externí osoba na 2. lékařská fakulta
26 publikací
Publikace
publication
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
2. lékařská fakulta
publication
Hereditární motorické neuropatie
2016 |
2. lékařská fakulta
publication
Hereditární neuropatie
+1
2015 |
2. lékařská fakulta
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 2. lékařská fakulta
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
2. lékařská fakulta
publication
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
2019 |
2. lékařská fakulta
publication
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
2018 |
2. lékařská fakulta
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
2. lékařská fakulta
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
2. lékařská fakulta
publication
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins
2018 |
2. lékařská fakulta
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