Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system
Ivády, Gergely, Madar, László, Dzsudzsák, Erika, Koczok, Katalin, Kappelmayer, János, Krulisova, Veronika, Macek, Jr, Milan, Horváth, Attila, Balogh, István
Published in BMC genomics (21.02.2018)
Published in BMC genomics (21.02.2018)
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A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening
Weidler, Sophia, Stopsack, Konrad H, Hammermann, Jutta, Sommerburg, Olaf, Mall, Marcus A, Hoffmann, Georg F, Kohlmüller, Dirk, Okun, Jürgen G, Macek, Milan, Votava, Felix, Krulišová, Veronika, Balaščaková, Miroslava, Skalická, Veronika, Lee-Kirsch, Min Ae, Stopsack, Marina
Published in Journal of cystic fibrosis (01.11.2016)
Published in Journal of cystic fibrosis (01.11.2016)
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Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/ de novo alleles and relevance for related/derived populations
Křenková, Petra, Piskáčková, Tereza, Holubová, Andrea, Balaščaková, Miroslava, Krulišová, Veronika, Čamajová, Jana, Turnovec, Marek, Libik, Malgorzata, Norambuena, Patricia, Štambergová, Alexandra, Dvořáková, Lenka, Skalická, Veronika, Bartošová, Jana, Kučerová, Tereza, Fila, Libor, Zemková, Dana, Vávrová, Věra, Koudová, Monika, Macek, Milan, Sr, Krebsová, Alice, Macek, Milan
Published in Journal of cystic fibrosis (01.09.2013)
Published in Journal of cystic fibrosis (01.09.2013)
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A genome-wide analysis of populations from European Russia reveals a new pole of genetic diversity in northern Europe
Khrunin, Andrey V, Khokhrin, Denis V, Filippova, Irina N, Esko, Tõnu, Nelis, Mari, Bebyakova, Natalia A, Bolotova, Natalia L, Klovins, Janis, Nikitina-Zake, Liene, Rehnström, Karola, Ripatti, Samuli, Schreiber, Stefan, Franke, Andre, Macek, Milan, Krulišová, Veronika, Lubinski, Jan, Metspalu, Andres, Limborska, Svetlana A
Published in PloS one (07.03.2013)
Published in PloS one (07.03.2013)
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Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
Krulišová, Veronika, Balaščaková, Miroslava, Skalická, Veronika, Piskáčková, Tereza, Holubová, Andrea, Paděrová, Jana, Křenková, Petra, Dvořáková, Lenka, Zemková, Dana, Kračmar, Petr, Chovancová, Blanka, Vávrová, Věra, Štambergová, Alexandra, Votava, Felix, Macek, Milan
Published in European journal of pediatrics (01.08.2012)
Published in European journal of pediatrics (01.08.2012)
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Journal Article
Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study
Mlčoch, Tomáš, Klimes, Jiří, Fila, Libor, Vávrová, Věra, Skalická, Veronika, Turnovec, Marek, Krulišová, Veronika, Jirčíková, Jitka, Zemková, Dana, Děděcková, Klára Vilimovská, Bílková, Alena, Frühaufová, Vladimíra, Homola, Lukáš, Friedmannová, Zuzana, Drnek, Radovan, Dřevínek, Pavel, Doležal, Tomáš, Macek, Milan
Published in The European journal of health economics (01.01.2017)
Published in The European journal of health economics (01.01.2017)
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Journal Article
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
Paderova, Jana, Drabova, Jana, Holubova, Andrea, Vlckova, Marketa, Havlovicova, Marketa, Gregorova, Andrea, Pourova, Radka, Romankova, Vera, Moslerova, Veronika, Geryk, Jan, Norambuena, Patricia, Krulisova, Veronika, Krepelova, Anna, Macek, Milan, Macek, Milan
Published in European journal of medical genetics (01.06.2018)
Published in European journal of medical genetics (01.06.2018)
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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
Esko, Tõnu, Mezzavilla, Massimo, Nelis, Mari, Borel, Christelle, Debniak, Tadeusz, Jakkula, Eveliina, Julia, Antonio, Karachanak, Sena, Khrunin, Andrey, Kisfali, Peter, Krulisova, Veronika, Aušrelé Kučinskiené, Zita, Rehnström, Karola, Traglia, Michela, Nikitina-Zake, Liene, Zimprich, Fritz, Antonarakis, Stylianos E, Estivill, Xavier, Glavač, Damjan, Gut, Ivo, Klovins, Janis, Krawczak, Michael, Kučinskas, Vaidutis, Lathrop, Mark, Macek, Milan, Marsal, Sara, Meitinger, Thomas, Melegh, Béla, Limborska, Svetlana, Lubinski, Jan, Paolotie, Aarno, Schreiber, Stefan, Toncheva, Draga, Toniolo, Daniela, Wichmann, H-Erich, Zimprich, Alexander, Metspalu, Mait, Gasparini, Paolo, Metspalu, Andres, D'Adamo, Pio
Published in European journal of human genetics : EJHG (01.06.2013)
Published in European journal of human genetics : EJHG (01.06.2013)
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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
Sommerburg, Olaf, Krulisova, Veronika, Hammermann, Jutta, Lindner, Martin, Stahl, Mirjam, Muckenthaler, Martina, Kohlmueller, Dirk, Happich, Margit, Kulozik, Andreas E, Votava, Felix, Balascakova, Miroslava, Skalicka, Veronika, Stopsack, Marina, Gahr, Manfred, Macek, Milan, Mall, Marcus A, Hoffmann, Georg F
Published in Journal of cystic fibrosis (01.01.2014)
Published in Journal of cystic fibrosis (01.01.2014)
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Journal Article
Complex morphological and molecular genetic examination of amelogenesis imperfecta: a case presentation of two Czech siblings with a non-syndrome form of the disease
Kripnerova, Tereza, Krulisova, Veronika, Ptakova, Nikola, Macek, Jr, Milan, Dostalova, Tatjana
Published in Neuro-endocrinology letters (2014)
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Published in Neuro-endocrinology letters (2014)
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