19 Summary of the simultaneous IRT/PAP/ST+DNA and IRT/DNA/IRT newborn screening protocols in the Czech Republic
Krulisova, V, Balascakova, M, Skalicka, V, Piskackova, T, Holubova, A, Stambergova, A, Dvorakova, L, Krenkova, P, Zemkova, D, Kracmar, P, Vavrova, V, Macek, M, Votava, F
Published in Journal of cystic fibrosis (2011)
Published in Journal of cystic fibrosis (2011)
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Experience with harmonizing the neonatal CF screening (NSCF) management via model IRT/PAP/DNA in the Czech Republic
Balascakova, M, Skalicka, V, Hodkova, P, Piskackova, T, Smolikova, L, Dřevinek, P, Austova, K, Pickova, A, Votava, F, Macek, M
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Spectrum of CFTR mutations in the Czech Republic
Krenkova, P, Piskackova, T, Balascakova, M, Holubova, A, Camajova, J, Hancarova, M, Dvorakova, L, Skalicka, V, Vavrova, V, Stambergova, A, Macek, M
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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364 Newborn screening in the Czech Republic: an effective tool for early detection of CF
Zemkova, D, Skalicka, V, Balascakova, M, Vavrova, V, Kracmar, P, Macek, M, Votava, F
Published in Journal of cystic fibrosis (2007)
Published in Journal of cystic fibrosis (2007)
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Correlation between Genetic and Geographic Structure in Europe
Lao, Oscar, Lu, Timothy T., Nothnagel, Michael, Junge, Olaf, Freitag-Wolf, Sandra, Caliebe, Amke, Balascakova, Miroslava, Bertranpetit, Jaume, Bindoff, Laurence A., Comas, David, Holmlund, Gunilla, Kouvatsi, Anastasia, Macek, Milan, Mollet, Isabelle, Parson, Walther, Palo, Jukka, Ploski, Rafal, Sajantila, Antti, Tagliabracci, Adriano, Gether, Ulrik, Werge, Thomas, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, André G., Gieger, Christian, Wichmann, Heinz-Erich, Rüther, Andreas, Schreiber, Stefan, Becker, Christian, Nürnberg, Peter, Nelson, Matthew R., Krawczak, Michael, Kayser, Manfred
Published in Current biology (26.08.2008)
Published in Current biology (26.08.2008)
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25 Cystic fibrosis (CF) prevalence derived from CF newborn screening (CFNBS) in the Czech Republic: comparison of previous epidemiological and current CFNBS-based disease prevalence data
Krulišová, V, Holubová, A, Piskáčková, T, Balaščaková, M, Skalická, V, Gaillyová, R, Valášková, I, Vinohradská, H, Votava, F, Macek, M
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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17 Cystic fibrosis newborn screening (CF NBS): 4 year experience of the Prague Centre with the IRT/DNA/IRT protocol
Holubová, A, Krulišová, V, Skalická, V, Votava, F, Dejmek, P, Balaščaková, M, Piskačková, T, Bartošová, J, Kinclová, E, Macek, M
Published in Journal of cystic fibrosis (01.06.2014)
Published in Journal of cystic fibrosis (01.06.2014)
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32 Uptake of genetic counseling and analysis of DNA testing outcomes following newborn screening for cystic fibrosis: Experience of the Prague centre
Holubová, A, Krulišová, V, Piskáčková, T, Balaščaková, M, Skalická, V, Votava, F, Macek, M
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease
Azad, Abul Kalam, Rauh, Robert, Vermeulen, François, Jaspers, Martine, Korbmacher, Judit, Boissier, Brigitte, Bassinet, Laurence, Fichou, Yann, Georges, Marie des, Stanke, Frauke, De Boeck, Kris, Dupont, Lieven, Balaščáková, Miroslava, Hjelte, Lena, Lebecque, Patrick, Radojkovic, Dragica, Castellani, Carlo, Schwartz, Marianne, Stuhrmann, Manfred, Schwarz, Martin, Skalicka, Veronika, de Monestrol, Isabelle, Girodon, Emmanuelle, Férec, Claude, Claustres, Mireille, Tümmler, Burkhard, Cassiman, Jean-Jacques, Korbmacher, Christoph, Cuppens, Harry
Published in Human mutation (01.07.2009)
Published in Human mutation (01.07.2009)
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470 Newborn screening for CF in the Czech Republic: results from a pilot study
Holubova, A., Votava, F., Skalicka, V., Balascakova, M., Vavrova, V., Zemkova, D., Kracmar, P., Libik, M., Camajova, J., Piskackova, T., Macek, M.
Published in Journal of cystic fibrosis (2006)
Published in Journal of cystic fibrosis (2006)
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