Search Results - "Borgulová, I"

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  1. 1
    Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman

    Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman by Borgulová, I., Mazanec, R., Sakmaryová, I., Havlová, M., Šafka Brožková, D., Seeman, P.

    Published in Neurogenetics (01-11-2013)
    “…Charcot-Marie-Tooth (CMT) disease is a heterogeneous disorder of the peripheral nervous system that collectively affects approximately 1 in 2,500 individuals,…”
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  2. 2
    P30 Atypical cases of pre-case haplotyping analysis in GENNET

    P30 Atypical cases of pre-case haplotyping analysis in GENNET by Putzova, M, Borgulová, I, Soldátová, I, Krutílková, V, Hejtmánková, M, Feldmár, P, Langerová, A, Brandejskà, M, Míka, J, Kren, R, Stejskal, D

    Published in Reproductive biomedicine online (01-05-2012)
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  3. 3
    Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

    Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis by Borgulova, I, Putzova, M, Soldatova, I, Krautova, L, Pecnova, L, Mika, J, Kren, R, Potuznikova, P, Stejskal, D

    Published in Bratislavské lékarské listy (2015)
    “…Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fluorescent in situ hybridization (FISH) to couples…”
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