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POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. [electronic resource] by
- Kulhánek, Jan
- Brožová, Klára
- Hansíková, Hana
- Vondráčková, Alžběta
- Stránecký, Viktor
- Šenkyřík, Jan
- Kmoch, Stanislav
- Zeman, Jiří
- Honzík, Tomáš
- Tesařová, Markéta
Producer: 20191112
In:
Neurologia i neurochirurgia polska vol. 53
Availability: No items available.
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Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. [electronic resource] by
- Vondráčková, Alžběta
- Veselá, Kateřina
- Kratochvílová, Hana
- Kučerová Vidrová, Vendula
- Vinšová, Kamila
- Stránecký, Viktor
- Honzík, Tomáš
- Hansíková, Hana
- Zeman, Jiří
- Tesařová, Markéta
Producer: 20141007
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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8.
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Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. [electronic resource] by
- Mazurova, Stella
- Magner, Martin
- Kucerova-Vidrova, Vendula
- Vondrackova, Alzbeta
- Stranecky, Viktor
- Pristoupilova, Anna
- Zamecnik, Josef
- Hansikova, Hana
- Zeman, Jiri
- Tesarova, Marketa
- Honzik, Tomas
Producer: 20180419
In:
Cardiology in the young vol. 27
Availability: No items available.
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Sideroblastic anemia associated with multisystem mitochondrial disorders. [electronic resource] 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
Producer: 20191121
In:
Pediatric blood & cancer vol. 66
Availability: No items available.
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