Martina Skopkova
4PUBLICATIONS
22CO-AUTHORS
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Publications (4)
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|Dec 09, 2025
Insights Into the Pathological Glycosylation Associated With COG6-CDG.Zuzana Pakanová, Maroš Krchňák, Marek Nemčovič
|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
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Frequent Collaborators
3 joint publications
Daniela Gasperikova
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
1 joint publications
Vibhuti Rambani
