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Results of search for 'au:"Safka Brožková, D"'
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Authors
Borgulová, I
Haberlová, J
Havlová, M
Krůtová, M
Laštůvková, J
Mazanec, R
Myška, P
Safka Brožková, D
Sakmaryová, I
Seeman, P
Trková, M
Šafka Brožková, D
Šafka Brožková, D
Štěpánková, H
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Topics
Adolescent
Adult
Charcot-Marie-Tooth Disease
Child
Child, Preschool
Connexin 26
Connexins
Czech Republic
DNA Mutational Analysis
Deafness
Ethnicity
Female
Genes, Recessive
Heterozygote
Homozygote
Humans
Male
Middle Aged
diagnosis
genetics
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1.
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.
[electronic resource]
by
Šafka Brožková, D
Haberlová, J
Mazanec, R
Laštůvková, J
Seeman, P
Producer:
20170522
In:
Clinical genetics
vol. 90
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2.
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
[electronic resource]
by
Borgulová, I
Mazanec, R
Sakmaryová, I
Havlová, M
Safka Brožková, D
Seeman, P
Producer:
20140623
In:
Neurogenetics
vol. 14
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Available from publisher's website
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No items available.
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3.
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.
[electronic resource]
by
Šafka Brožková, D
Laštůvková, J
Štěpánková, H
Krůtová, M
Trková, M
Myška, P
Seeman, P
Producer:
20130412
In:
Clinical genetics
vol. 82
Online resources:
Available from publisher's website
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No items available.
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