Dana Safka-Brozkova (Dana Safka Brozkova, D Safka Brozkova)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 6

Top Venues

Clinical genetics

European journal of neurology

Genes

Orphanet journal of rare diseases

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, 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)
Dana Safka-Brozkova, T Stojkovic, J Haberlová, R Mazanec, R Windhager, P Fernandes Rosenegger, S Hacker, S Züchner, A Kochański, S Leonard-Louis, B Francou, P Latour, J Senderek, P Seeman, M Auer-Grumbach
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations. European journal of neurology 27 (12) (2020)
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)
Dana Safka-Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova, Pavel Seeman
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant. Orphanet journal of rare diseases 15 (1) (2020)

Dana Safka-Brozkova.css-eqlu8i{font-size:small;padding-left:4px;} (Dana Safka Brozkova, D Safka Brozkova)

Publication Activity (10 Years)

Top Topics

Top Venues

Dana Safka-Brozkova (Dana Safka Brozkova, D Safka Brozkova)