Anna Uhrová Mészárosová (Anna Uhrová Meszarosová, Anna Uhrova-Meszarosova)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 5

Top Topics

Duchenne Muscular Dystrophy

Top Venues

Clinical genetics

Annals of human genetics

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

Publications

Anna Uhrová Mészárosová, Marketa Vlckova, Ladislava Rennerova, Jana Haberlova, Josef Zamecnik, Pavel Seeman, Dana Safka-Brozkova
A progressive KY myopathy could be caused by a missense pathogenic variant. Clinical genetics (2023)
Anna Uhrová Mészárosová, Marketa Vlckova, Ladislava Rennerova, Jana Haberlova, Josef Zamecnik, Pavel Seeman, Dana Safka-Brozkova
A progressive KY myopathy could be caused by a missense pathogenic variant. Clinical genetics (2023)
Dana Safka-Brozkova, Simona Poisson Marková, Anna Uhrová Mészárosová, Ján Jenčík, Vlasta Čejnová, Zdeněk Čada, Jana Laštůvková, Dagmar Rašková, Pavel Seeman
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing. Clinical genetics 98 (6) (2020)
Jana Čopíková, Jana Paděrová, Věra Románková, Markéta Havlovicová, Miroslava Balaščáková, Michaela Zelinová, Šárka Vejvalková, Martina Simandlová, Jana Štěpánková, Věra Hořínová, Eva Kantorová, Gabriela Křečková, Jana Pospíšilová, Arpád Boday, Anna Uhrová Mészárosová, Marek Turnovec, Pavel Votýpka, Petra Liskova, Radka Kremlíková Pourová
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. Annals of human genetics 84 (5) (2020)
Anna Uhrová Mészárosová, Dagmar Grečmalová, Michaela Brázdilová, Nina Dvořáčková, Zdeněk Kalina, Marie Čermáková, Dagmar Vávrová, Irena Smetanová, David Staněk, Pavel Seeman
Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients. Annals of human genetics 81 (6) (2017)