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Libor Kozák

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Eva Zapletalová; Petra Hedvicáková; Libor Kozák; Petr Vondrácek; Renata Gaillyová; Tat'ána Maríková; Zdenek Kalina; Vera Jüttnerová; Jirí Fajkus; Lenka Fajkusová
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zuzana Skopková; Eva Hrabincová; Sylvie Stástná; Libor Kozák; Tomás Adam
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
S Vrábelová; Pavlína Váňová; L Kopecková; P Trunecka; V Smolka; D Procházková; S Vejvalková; A Suláková; V Kupcová; V Bzdúch; Libor Kozák
[Molecular analysis of Wilson disease].

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All Publications

2007: Eva Zapletalová; Petra Hedvicáková; Libor Kozák; Petr Vondrácek; Renata Gaillyová; Tat'ána Maríková; Zdenek Kalina; Vera Jüttnerová; Jirí Fajkus; Lenka Fajkusová
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Neuromuscular disorders : NMD 2007;17(6):476-81.
2005: Zuzana Skopková; Eva Hrabincová; Sylvie Stástná; Libor Kozák; Tomás Adam
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
Annals of human genetics 2005;69(Pt 5):501-7.
2002: S Vrábelová; Pavlína Váňová; L Kopecková; P Trunecka; V Smolka; D Procházková; S Vejvalková; A Suláková; V Kupcová; V Bzdúch; Libor Kozák
[Molecular analysis of Wilson disease].
Casopís lékar̆ů c̆eských 2002;141(20):642-5.
2002: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; Romana Slováĉková; Libor Kozák; Romana Slováková
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2002;19(1):80.
2001: Viera Kuhrová; Hana Francová; Petra Zapletalová; Tomás Freiberger; Lenka Fajkusová; Eva Hrabincová; R Slováková; Libor Kozák
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.
Human mutation 2001;18(3):253.
2001: M Trbusek; Hana Francová; Libor Kozák
Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.
Human genetics 2001;109(1):117-20.
2001: J Rudolfová; R Slovácková; M Trbusek; K Pesková; S St'astná; Libor Kozák
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.
Journal of inherited metabolic disease 2001;24(1):85-7.
2000: V Bzdúch; Libor Kozák; Hana Francová; D Behúlová
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.
American journal of medical genetics 2000;95(1):85.
2000: V Bzdúch; D Behúlová; Libor Kozák; J Skodová; E Véghová; A Dello Russo; Gaetano Corso; F Bauer
Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol.
Journal of inherited metabolic disease 2000;23(6):638-9.
2000: Libor Kozák; Hana Francová; Eva Hrabincová; S Stastná; K Pesková; M Elleder
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.
Human mutation 2000;16(1):89.
2000: Libor Kozák; Hana Francová; Eva Hrabincová; D Procházková; V Jüttnerová; V Bzdúch; P Simek
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
Journal of inherited metabolic disease 2000;23(4):409-12.
2000: Libor Kozák; Hana Francová; Lenka Fajkusová; A Pijácková; J Macku; S Stastná; K Peskovová; O Martincová; J Krijt; V Bzdúch
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).
Human mutation 2000;15(2):206.
2000: V Smolka; Z Frysák; Libor Kozák; J Mathonová; V Jezdinská; Z Novák; Y Hrcková; S Vrábelová
[The hepatic form of Wilson's disease in young patients].
Vnitr̆ní lékar̆ství 2000;46(1):24-9.
1999: M Borský; V Pekarík; M Tvrdíková; Libor Kozák
[Direct DNA diagnosis of Friedreich's ataxia].
Casopís lékar̆ů c̆eských 1999;138(18):557-9.
1999: Libor Kozák; Hana Francová; A Pijácková; J Macku; S Stastná; K Peskovová; O Martincová; J Krijt
Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.
Journal of medical genetics 1999;36(7):576-8.
1999: V Pekarík; M Blazková; Libor Kozák
Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic.
American journal of medical genetics 1999;84(3):214-6.
1998: Tomás Freiberger; Viera Kuhrová; Libor Kozák; V Soska; V Pekarík; L Mĕrínská; Lenka Fajkusová; Hana Francová
[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].
Casopís lékar̆ů c̆eských 1998;137(24):750-2.
1997: Libor Kozák; M Blazková; Viera Kuhrová; A Pijácková; S Růzicková; S St'astná
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.
Journal of medical genetics 1997;34(11):893-8.
1997: S Růzicková; Libor Kozák; M Blazková; J Kapras; S St'astná
[Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
Casopís lékar̆ů c̆eských 1997;136(9):282-5.
1995: Libor Kozák; Viera Kuhrová; M Blazková; V Romano; Lenka Fajkusová; D Dvoráková; A Pijácková
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.
Human genetics 1995;96(4):472-6.
1995: Libor Kozák; Viera Kuhrová; M Blazková; Lenka Fajkusová; D Dvoráková; A Pijácková
[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].
Casopís lékar̆ů c̆eských 1995;134(12):385-7.
1993: Libor Kozák; D Dvoráková; A Pijácková; J Kamarýt
Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia.
Journal of inherited metabolic disease 1993;16(2):451-6.
1992: M Durpektová; Libor Kozák; A Mrskos; J Kamarýt; J Snopková; A Pijácková; J Starha
[Screening for alpha 1-antitrypsin deficiency in neonates].
Ceskoslovenská pediatrie 1992;47(4):201-3.