Martina Škopková (Martina Skopkova)

Publication Activity (10 Years)

Years Active: 2023-2023
Publications (10 Years): 6

Top Topics

Machine Learning

Genome Wide Analysis

Top Venues

Neurology. Genetics

Diabetic medicine : a journal of the British Diabetic Association

This page only lists publications with an associated author ORCID identifier.

Publications

Vibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, Martina Škopková, Daniela Gasperikova
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology. Neurology. Genetics 9 (6) (2023)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
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. Genes 14 (12) (2023)
Vibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, Martina Škopková, Daniela Gasperikova
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology. Neurology. Genetics 9 (6) (2023)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
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. Genes 14 (12) (2023)
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René Günther Feichtinger, Johannes Adalbert Mayr, Martina Škopková, Daniela Gasperikova, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
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. Genes 14 (12) (2023)
Terezia Kickova, Martina Škopková, Zuzana Dobiasova, Gabriela Lackova, Zita Belicova, Katarina Schenkova, Juraj Stanik, Daniela Gasperikova
An alternative approach using hs-CRP levels and age of onset in diagnostics of HNF1A-MODY. Diabetic medicine : a journal of the British Diabetic Association (2023)