Daniela Gasperikova (Daniela Gašperíková)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 15

Top Venues

Orphanet journal of rare diseases

Genes

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)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (2023)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (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)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (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)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (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)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (2023)
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet journal of rare diseases 18 (1) (2023)
Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gasperikova
Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report. BMC pediatrics 21 (1) (2021)
Dana Safka-Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gasperikova, Pavel Seeman
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region. Genes 12 (5) (2021)
Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant, Daniela Gasperikova
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report. BMC medical genetics 20 (1) (2019)

Daniela Gasperikova.css-eqlu8i{font-size:small;padding-left:4px;} (Daniela Gašperíková)

Publication Activity (10 Years)

Top Topics

Top Venues

Daniela Gasperikova (Daniela Gašperíková)