Search Results - Vondráčková, Alžběta

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  1. 1
    The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

    The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions by Anteneová, Nicole, Kelifová, Silvie, Kolářová, Hana, Vondráčková, Alžběta, Tóthová, Iveta, Lišková, Petra, Magner, Martin, Zámečník, Josef, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta, Honzík, Tomáš

    Published in Brain sciences
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  2. 2
    Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

    Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders by Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta

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  3. 3
    POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene

    POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene by Kulhánek, Jan, Brožová, Klára, Hansíková, Hana, Vondráčková, Alžběta, Stránecký, Viktor, Šenkyřík, Jan, Kmoch, Stanislav, Zeman, Jiří, Honzík, Tomáš, Tesařová, Markéta

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  4. 4
    Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders

    Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders by Vondráčková, Alžběta, Veselá, Kateřina, Tesařová, Markéta, Vinšová, Kamila, Stránecký, Viktor, Hansíková, Hana, Zeman, Jiří

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  5. 5
    Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

    Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature by Mazurova, Stella, Magner, Martin, Kucerova-Vidrova, Vendula, Vondrackova, Alzbeta, Stranecky, Viktor, Pristoupilova, Anna, Zamecnik, Josef, Hansikova, Hana, Zeman, Jiri, Tesarova, Marketa, Honzik, Tomas

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  6. 6
    Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

    Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic coppe... by Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana

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  7. 7
    Sideroblastic anemia associated with multisystem mitochondrial disorders

    Sideroblastic anemia associated with multisystem mitochondrial disorders by Tesarova, Marketa, Vondrackova, Alzbeta, Stufkova, Hana, Veprekova, Lenka, Stranecky, Viktor, Berankova, Kamila, Hansikova, Hana, Magner, Martin, Galoova, Natalia, Honzik, Tomas, Vodickova, Elena, Stary, Jan, Zeman, Jiri

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