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: 194
2011
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Rare Constitutional Chromosomal Rearrangements Found In Three Probands
Year: 2011, type: Conference abstract
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Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families
Fertility and Sterility, year: 2011, volume: 96, edition: 1, DOI
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Vnitřní lékařství
Year: 2011, edition: 1.vyd., number of pages: 1788 s.
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