Total number of publications: 201
2010
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A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters
Heart Rhythm, year: 2010, volume: 7, edition: 4, DOI
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AEC syndrome caused by heterozygous mutation in the SAM domain of p63 gene
European Journal of Dermatology, year: 2010, volume: 20, edition: 3, DOI
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Array CGH characterization of three patients with deletion 22q13
Year: 2010, type: Conference abstract
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Clinical characteristic of 28 Czech families with genetically confirmed diagnosis of long QT syndrome.
Year: 2010, type: Conference abstract
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Clinical characteristic of 4 Czech families with catecholaminergic polymorphic ventricular tachycardia and pilot results of mutational analysis of RyR gene
Year: 2010, type: Conference abstract
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Databáze DECIPHER a její využití u pacientů s psychomotorickou retardací vyšetřovaných pomocí array CGH
Year: 2010, type: Appeared in Conference without Proceedings
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Detection of subtelomeric aberrations as a cause of mental retardation
Year: 2010, type: Conference abstract
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Detection of the polymorphisms in the CYP2D6 gene and their influence on metabolism of drugs
Year: 2010, type: Conference abstract
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Galactosemia, Prader-Willi syndrome and diabetes mellitus type I: two case reports
Year: 2010, type: Conference abstract
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Galaktosémie, Prader-Willi syndrom a diabetes mellitus 1.typu: 2 kazuistiky našich pacientek
VII.Festival kazuistik, Pediatrická konference, 25.-27.9.2010, DK Elektra, Luhačovice, Sborník abstrakt, year: 2010