Daniela Gasperikova
7PUBLICATIONS
11CO-AUTHORS
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Publications (7)
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|Jan 18, 2024
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.Vibhuti Rambani, Miriam Kolnikova, Michal Cagalinec
|Dec 23, 2023
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek
|Dec 14, 2023
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY.Terezia Kickova, Martina Skopkova, Zuzana Dobiasova
|Apr 24, 2023
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.Martina Skopkova, Hana Stufkova, Vibhuti Rambani
|Dec 17, 2021
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.Katarína Brennerová, Martina Škopková, Mária Ostrožlíková
|Jun 02, 2021
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova
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Frequent Collaborators
3 joint publications
Martina Skopkova
1 joint publications
Dana Safka Brozkova
1 joint publications
Terezia Kickova
1 joint publications
Zuzana Dobiasova
1 joint publications
Juraj Stanik
1 joint publications
Katarína Kušíková
1 joint publications
René G Feichtinger
1 joint publications
Johannes A Mayr
1 joint publications
Serge Weis
1 joint publications
Denisa Weis
