Detection of variability in apo(a) gene transcription regulatory sequences using the DGGE method
Zídková, Kateřina, Kebrdlová, Věra, Zlatohlávek, Lukáš, Češka, Richard
Published in Clinica chimica acta (01.02.2007)
Published in Clinica chimica acta (01.02.2007)
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Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
Schwarzová, Lucie, Štekrová, Jitka, Florianová, Martina, Novotný, Aleš, Schneiderová, Michaela, Lněnička, Petr, Kebrdlová, Věra, Kotlas, Jaroslav, Veselá, Kamila, Kohoutová, Milada
Published in Familial cancer (01.03.2013)
Published in Familial cancer (01.03.2013)
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Detection of microsatellite instability in Czech HNPCC patients
Sekowská, Martina, Křepelová, Anna, Kebrdlová, Věra
Published in Journal of applied biomedicine (31.03.2008)
Published in Journal of applied biomedicine (31.03.2008)
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Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
Hirschfeldova, Katerina, Florianova, Martina, Kebrdlova, Vera, Urbanova, Marketa, Stekrova, Jitka
Published in Journal of human genetics (01.02.2017)
Published in Journal of human genetics (01.02.2017)
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PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease
Štekrová, Jitka, Reiterová, Jana, Merta, Miroslav, Damborský, Jirt, Židovská, Jana, Kebrdlová, Vera, Kohoutová, Milada
Published in Nephrology, dialysis, transplantation (01.05.2004)
Published in Nephrology, dialysis, transplantation (01.05.2004)
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Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects
Stekrova, Jitka, Sulova, Martina, Kebrdlova, Vera, Zidkova, Katerina, Kotlas, Jaroslav, Ilencikova, Denisa, Vesela, Kamila, Kohoutova, Milada
Published in BMC medical genetics (05.04.2007)
Published in BMC medical genetics (05.04.2007)
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
Stekrova, Jitka, Reiterova, Jana, Svobodova, Stanislava, Kebrdlova, Vera, Lnenicka, Petr, Merta, Miroslav, Viklicky, Ondrej, Kohoutova, Milada
Published in BMC medical genetics (17.08.2009)
Published in BMC medical genetics (17.08.2009)
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Analysis of common SHOX gene sequence variants and ∼4.9-kb PAR1 deletion in ISS patients
SOLC, ROMAN, HIRSCHFELDOVA, KATERINA, KEBRDLOVA, VERA, BAXOVA, ALICE
Published in Journal of genetics (01.08.2014)
Published in Journal of genetics (01.08.2014)
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Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
METZGER, Silke, BAUER, Peter, SEPPI, Klaus, MELEGH, Bela, HAVASI, Viktoria, BALIKO, Laszlo, WIECZOREK, Stefan, ZAREMBA, Jacek, HOFFMAN-ZACHARSKA, Dorota, SULEK, Anna, NAZLI BASAK, A, SOYDAN, Esra, TOMIUK, Jürgen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, MARIOTTI, Caterina, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population
Hirschfeldova, Katerina, Baxova, Alice, Kebrdlova, Vera, Solc, Roman, Mihalova, Romana, Lnenicka, Petr, Vesela, Kamila, Stekrova, Jitka
Published in Genetic testing and molecular biomarkers (01.09.2011)
Published in Genetic testing and molecular biomarkers (01.09.2011)
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The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
METZGER, Silke, BAIUER, Peter, MELEGH, Bela, HAVASI, Victoria, BALIKO, Lazlo, WIECZOREK, Stefan, ARNING, Larissa, ZAREMBA, Jacek, SUIEK, Anna, HOFFMAN-ZACHARSKA, Dorota, BASAK, A. Nazli, ERSOY, Nagehan, TOMIUK, Juergen, ZIDOVSKA, Jana, KEBRDLOVA, Vera, PANDOLFO, Massimo, RIBAÏ, Pascale, KADASI, Ludovit, KVASNICOVA, Marta, WEBER, Bernhard H. F, KREUZ, Friedmar, DOSE, Matthias, STUHRMANN, Manfred, LACCONE, Franco, RIESS, Olaf, DIDONATO, Stefano, GELLERA, Cinzia, SOLIVERI, Paola, LANGE, Herwig W, WEIRICH-SCHWAIGER, Helga, WENNING, Gregor K
Published in Neurogenetics (01.03.2006)
Published in Neurogenetics (01.03.2006)
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