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List of works by Dana Šafka Brožková

Czech family confirms the link between FBLN5 and Charcot–Marie–Tooth type 1 neuropathy ⬇️

scientific article published on January 16, 2013

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family ⬇️

scientific article published on August 27, 2012

DFNB49 is an important cause of non‐syndromic deafness in Czech Roma patients but not in the general Czech population ⬇️

scientific article published on December 13, 2011

Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations

scientific article published on 05 August 2020

Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman ⬇️

scientific article published on August 4, 2013

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by NGS gene panel and WES

scientific article published on 28 August 2020

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

scientific article published on 26 August 2020

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