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Dana Safka Brozkova
34
results:
Search for persons
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Format
Online (34)
Mediatypes
Articles (Online) (25)
OpenAccess-fulltext (9)
Languages
english (33)
Sorted by: Relevance
Sorted by: Year
?
1
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary S..:
Schob, Claudia
;
Hempel, Maja
;
Safka Brozkova, Dana
...
Annals of Neurology. 90 (2021) 5 - p. 738-750 , 2021
Link:
https://doi.org/10.1002/..
?
2
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—..:
Safka Brozkova, Dana
;
Uhrova Meszarosova, Anna
;
Lassuthova, Petra
...
Genes. 12 (2021) 5 - p. 684 , 2021
Link:
https://doi.org/10.3390/..
?
3
Two types of recessive hereditary spastic paraplegia in Rom..:
Meszarosova, Anna Uhrova
;
Seeman, Pavel
;
Jencik, Jan
...
Neuroscience Letters. 721 (2020) - p. 134800 , 2020
Link:
https://doi.org/10.1016/..
?
4
Spectrum and frequencies of non GJB2 gene mutations in Czec..:
Safka Brozkova, Dana
;
Poisson Marková, Simona
;
Mészárosová, Anna Uhrová
...
Clinical Genetics. 98 (2020) 6 - p. 548-554 , 2020
Link:
https://doi.org/10.1111/..
?
5
Variant c.2158-2A>G in MANBA is an important and frequent c..:
Safka Brozkova, Dana
;
Varga, Lukas
;
Uhrova Meszarosova, Anna
...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
6
Moderate sensorineural hearing loss is typical for DFNB16 c..:
Čada, Zdeněk
;
Šafka Brožková, Dana
;
Balatková, Zuzana
...
European Archives of Oto-Rhino-Laryngology. 276 (2019) 12 - p. 3353-3358 , 2019
Link:
https://doi.org/10.1007/..
?
7
Autosomal recessive hereditary spastic paraplegia type SPG3..:
Uhrova Meszarosova, Anna
;
Safka Brozkova, Dana
;
Vyhnalek, Martin
...
Journal of Clinical Neuroscience. 59 (2019) - p. 337-339 , 2019
Link:
https://doi.org/10.1016/..
?
8
Confirmation of the GNB4 gene as causal for Charcot–Marie–T..:
Laššuthová, Petra
;
Šafka Brožková, Dana
;
Neupauerová, Jana
...
Neuromuscular Disorders. 27 (2017) 1 - p. 57-60 , 2017
Link:
https://doi.org/10.1016/..
?
9
Severe axonal Charcot-Marie-Tooth disease with proximal wea..:
Laššuthová, Petra
;
Šafka Brožková, Dana
;
Krůtová, Marcela
...
Brain. 139 (2016) 4 - p. e26-e26 , 2016
Link:
https://doi.org/10.1093/..
?
10
HMSN Lom in 12 Czech patients, with one unusual case due to..:
Šafka Brožková, Dana
;
Paulasová Schwabová, Jaroslava
;
Neupauerová, Jana
...
Journal of Human Genetics. 62 (2016) 3 - p. 431-435 , 2016
Link:
https://doi.org/10.1038/..
?
11
Improving diagnosis of inherited peripheral neuropathies th..:
Laššuthová, Petra
;
Šafka Brožková, Dana
;
Krůtová, Marcela
...
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1186/..
?
12
Mutations in eight small DFNB genes are not a frequent caus..:
Marková, Simona
;
Šafka Brožková, Dana
;
Mészárosová, Anna
...
International Journal of Pediatric Otorhinolaryngology. 86 (2016) - p. 27-33 , 2016
Link:
https://doi.org/10.1016/..
?
13
Loss of function mutations inHARScause a spectrum of inheri..:
Safka Brozkova, Dana
;
Deconinck, Tine
;
Beth Griffin, Laurie
...
Brain. 138 (2015) 8 - p. 2161-2172 , 2015
Link:
https://doi.org/10.1093/..
?
14
Czech family confirms the link between FBLN5 and Charcot–Ma..:
Šafka Brožková, Dana
;
Laššuthová, Petra
;
Neupauerová, Jana
...
Brain. 136 (2013) 7 - p. e232-e232 , 2013
Link:
https://doi.org/10.1093/..
?
15
DFNB35 due to a novel mutation in the ESRRB gene in a Czech..:
Šafka Brožková, Dana
;
Laštůvková, Jana
;
Machalová, Eliška
...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 11 - p. 1681-1684 , 2012
Link:
https://doi.org/10.1016/..
1-15