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doc. MUDr. Dana Šafka Brožková Ph.D.
Akademický pracovník na 2. lékařská fakulta
37 publikací
Publikace
publication
The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region
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
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
2016 |
2. lékařská fakulta
publication
Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom
2015 |
2. lékařská fakulta
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
2. lékařská fakulta
publication
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
2012 |
2. lékařská fakulta
publication
A progressive KY myopathy could be caused by a missense pathogenic variant
2023 |
2. lékařská fakulta
publication
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
2021 |
2. 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
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