Search Results - "Ferak, Vladimir"

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    Population genetic data for 16 STR loci in Slovakia by Červenák, Zdenko, Mikula, Milan, Matúšek, Ján, Ferák, Vladimír, Choma, Andrej

    Published in Legal medicine (Tokyo, Japan) (01-09-2018)
    “…•Significant difference in allele frequency found in comparison with four geographically related populations.•No linkage disequilibrium observed between two…”
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    Journal Article
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    Lactase Haplotype Diversity in the Old World by Hollox, Edward J., Poulter, Mark, Zvarik, Marek, Ferak, Vladimir, Krause, Amanda, Jenkins, Trefor, Saha, Nilmani, Kozlov, Andrew I., Swallow, Dallas M.

    Published in American journal of human genetics (01-01-2001)
    “…Lactase persistence, the genetic trait in which intestinal lactase activity persists at childhood levels into adulthood, varies in frequency in different human…”
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    Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma by Plášilová, Martina, Stoilov, Ivaylo, Sarfarazi, Mansoor, Kádasi, Ludovít, Feráková, Eva, Ferák, Vladimír

    Published in Journal of medical genetics (01-04-1999)
    “…Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in…”
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    Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia by Plásilová, M, Feráková, E, Kádasi, L, Poláková, H, Gerinec, A, Ott, J, Ferák, V

    Published in Human heredity (01-01-1998)
    “…The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at…”
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    Journal Article
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    Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation by Varon, R, Stuhrmann, M, Macek, Jr, M, Kufardjieva, A, Angelicheva, D, Magdorf, K, Jordanova, A, Savov, A, Wahn, U, Macek, M

    Published in Human mutation (1995)
    “…Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a cAMP-regulated…”
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    Y chromatin frequency in white blood cells of newborn males by Poláková, H, Gencík, A, Ferák, V

    Published in Journal of perinatal medicine (1980)
    “…The frequency of fluorescent Y chromatin bodies was studied in white blood cells of 30 newborn males during the first 5 days of life. No significant day-to-day…”
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    PKU in Slovakia : mutation screening and haplotype analysis by KADASI, L, POLAKOVA, H, FERAKOVA, E, HUDECOVA, S, BOHUSOVA, T, SZOMOLAYOVA, I, STRNOVA, J, HRUSKOVIC, I, MOSCHONAS, N. K, FERAK, V

    Published in Human genetics (1995)
    “…The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak…”
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    Journal Article