Results
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2.
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Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. [electronic resource] by
- Chrobáková, Tána
- Hermanová, Markéta
- Kroupová, Iva
- Vondrácek, Petr
- Maríková, Tat'ána
- Mazanec, Radim
- Zámecník, Josef
- Stanek, Jan
- Havlová, Miluse
- Fajkusová, Lenka
Producer: 20041230
In:
Neuromuscular disorders : NMD vol. 14
Availability: No items available.
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3.
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Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. [electronic resource] by
- Zapletalová, Eva
- Hedvicáková, Petra
- Kozák, Libor
- Vondrácek, Petr
- Gaillyová, Renata
- Maríková, Tat'ána
- Kalina, Zdenek
- Jüttnerová, Vera
- Fajkus, Jirí
- Fajkusová, Lenka
Producer: 20070726
In:
Neuromuscular disorders : NMD vol. 17
Availability: No items available.
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4.
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Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy. [electronic resource] by
- Neupauerová, Jana
- Štěrbová, Katalin
- Vlčková, Markéta
- Sebroňová, Věra
- Maříková, Tat'ána
- Krůtová, Marcela
- David, Staněk
- Kršek, Pavel
- Žaliová, Markéta
- Seeman, Pavel
- Laššuthová, Petra
Producer: 20180206
In:
Genetic testing and molecular biomarkers vol. 21
Availability: No items available.
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5.
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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. [electronic resource] by
- Stehlíková, Kristýna
- Zapletalová, Eva
- Sedlácková, Jana
- Hermanová, Markéta
- Vondrácek, Petr
- Maríková, Tat'ána
- Mazanec, Radim
- Zámecník, Josef
- Vohánka, Stanislav
- Fajkus, Jirí
- Fajkusová, Lenka
Producer: 20070416
In:
Neuromuscular disorders : NMD vol. 17
Availability: No items available.
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6.
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome. [electronic resource] by
- Sedlácková, Jana
- Vondrácek, Petr
- Hermanová, Markéta
- Zámecník, Josef
- Hrubá, Zuzana
- Haberlová, Jana
- Kraus, Josef
- Maríková, Tat'ána
- Hedvicáková, Petra
- Vohánka, Stanislav
- Fajkusová, Lenka
Producer: 20100105
In:
Neuromuscular disorders : NMD vol. 19
Availability: No items available.
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