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Studium
doc. MUDr. Dana Šafka Brožková Ph.D.
Akademický pracovník na 2. lékařská fakulta
37 publikací
Publikace
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
2. lékařská fakulta
publication
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
2013 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
2. lékařská fakulta
publication
The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region
2021 |
2. lékařská fakulta
publication
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 |
2. lékařská fakulta
publication
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
2020 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
2020 |
2. lékařská fakulta
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
2. lékařská fakulta
publication
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers
2020 |
2. lékařská fakulta
publication
Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations
2020 |
2. lékařská fakulta
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