MUDr. Renata Gaillyová, Ph.D.
Institute of Medical Genetics and Genomics
phone: | +420 532 23 4489 |
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e‑mail: |
Total number of publications: 197
2010
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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
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Galaktosémie, Prader-Willi syndrom a diabetes mellitus I typu: 2 kazuistiky našich pacientek
Year: 2010
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Charakteristika tří pacientů s mikrodelečním syndromem 22q13 - Phelan McDermid
Year: 2010, type: Appeared in Conference without Proceedings
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Intra spinální Ependymom u dívky s NF2, mozaikou Turnerova syndromu, pozitivitou SRY a berzpříznakovým nosičstvím mutace genu CFTR.
Year: 2010