Molecular Genetic Analysis of SLC3A1 and SLC7A9 Genes in Czech and Slovak Cystinuric Patients
Škopková, Zuzana, Hrabincová, Eva, Štástná, Sylvie, Kozák, Libor, Adam, Tomáš
Published in Annals of human genetics (01.09.2005)
Published in Annals of human genetics (01.09.2005)
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Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
Kuhrová, Viera, Francová, Hana, Zapletalová, Petra, Freiberger, Tomáš, Fajkusová, Lenka, Hrabincová, Eva, Slováková, Romana, Kozák, Libor
Published in Human mutation (01.09.2001)
Published in Human mutation (01.09.2001)
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Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families
KOZAK, L, FRANCOVA, H, HRABINCOVA, E, PROCHAZKOVA, D, JÜTTNEROVA, V, BZDUCH, V, SIMEK, P
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment
Hyanek, J, Kozak, L, Hrabincova, E, Trnka, V, Kobilkova, J, Dolezal, A, Soukup, K, Zeman, J, Stastna, S, Vadurova, L, Krijt, J, Viletova, H, Cervena, M, Paterova, T
Published in Bratislavské lékarské listy (2004)
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Published in Bratislavské lékarské listy (2004)
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Metabolic cause of Reye-like syndrome
Bzduch, V, Behulova, D, Lehnert, W, Fabriciova, K, Kozak, L, Salingova, A, Hrabincova, E, Benedekova, M
Published in Bratislavské lékarské listy (2001)
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Published in Bratislavské lékarské listy (2001)
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Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants
Machackova, Eva, Claes, Kathleen, Mikova, Miroslava, Házová, Jana, Sťahlová, Eva Hrabincová, Vasickova, Petra, Trbusek, Martin, Navrátilová, Marie, Svoboda, Marek, Foretová, Lenka
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2019)
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2019)
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GAPPS - Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Syndrome in 8 Families Tested at Masaryk Memorial Cancer Institute - Prevention and Prophylactic Gastrectomies
Foretová, Lenka, Navrátilová, Marie, Svoboda, Marek, Grell, Petr, Nemec, Libor, Sirotek, Lukáš, Obermannová, Radka, Novotný, Ivo, Sachlova, Milana, Fabian, Pavel, Kroupa, Radek, Vasickova, Petra, Házová, Jana, Sťahlová, Eva Hrabincová, Machackova, Eva
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2019)
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2019)
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Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
Tighe, Orna, Dunican, Donncha, O'Neill, Charles, Bertorelle, Giorgio, Beattie, Diane, Graham, Colin, Zschocke, Johannes, Cali, Francesco, Romano, Valentino, Hrabincova, Eva, Kozak, Libor, Nechyporenko, Marina, Livshits, Ludmilla, Guldberg, Per, Jurkowska, Monika, Zekanowski, Cezary, Perez, Belen, Desviat, Lourdes Ruiz, Ugarte, Magdalena, Kučinskas, Vaidutis, Knappskog, Per, Treacy, Eileen, Naughten, Eileen, Tyfield, Linda, Byck, Susan, Scriver, Charles R., Mayne, Philip D., Croke, David T.
Published in Human mutation (01.04.2003)
Published in Human mutation (01.04.2003)
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Journal Article
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
Kuhrová, Viera, Francová, Hana, Zapletalová, Petra, Freiberger, Tomáš, Fajkusová, Lenka, Hrabincová, Eva, Slováková, Romana, Kozák, Libor
Published in Human mutation (01.01.2002)
Published in Human mutation (01.01.2002)
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Journal Article
The clinical importance of a genetic analysis of moderate-risk cancer susceptibility genes in breast and other cancer patients from the Czech Republic
Pohlreich, P, Kleibl, Z, Kleiblová, P, Janatová, M, Soukupová, J, Macháčková, E, Házová, J, Vašíčková, P, Sťahlová Hrabincová, E, Navrátilová, M, Svoboda, M, Foretová, L
Published in Klinická onkologie (2012)
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Published in Klinická onkologie (2012)
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Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5
Kozák, Libor, Francová, Hana, Hrabincová, Eva, Štastná, Sylvie, Pešková, Karolína, Elleder, Milan
Published in Human mutation (01.07.2000)
Published in Human mutation (01.07.2000)
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Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population
Kozàk, L, Hrabincovà, E, Rudolfoà, J, Vràbelovà, S, Freiberger, T
Published in Southeast Asian journal of tropical medicine and public health (1999)
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Published in Southeast Asian journal of tropical medicine and public health (1999)
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