Search Results - Hirschfeldová, K.

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  1. 1
    A suitable sequence of bioinformatics tools for NGS diagnosis of familial hypercholesterolemia

    A suitable sequence of bioinformatics tools for NGS diagnosis of familial hypercholesterolemia by Horinek, A., Hirschfeldová, K., Obeidova, L., Pazourková, E., Todorovova, V., Vrablík, M., Satny, M.

    Published in Atherosclerosis
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  2. 2
    SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

    SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis by Hirschfeldova, K., Solc, R., Baxova, A., Zapletalova, J., Kebrdlova, V., Gaillyova, R., Prasilova, S., Soukalova, J., Mihalova, R., Lnenicka, P., Florianova, M., Stekrova, J.

    Published in Gene
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  3. 3
    Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius

    Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius by Soucek, O, Zapletalova, J, Zemkova, D, Snajderova, M, Novotna, D, Hirschfeldova, K, Plasilova, I, Kolouskova, S, Rocek, M, Hlavka, Z, Lebl, J, Sumnik, Z

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  4. 4
    Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene

    Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene by Urbanova, M, Hirschfeldova, K, Obeidova, L, Janosikova, B, Lastuvkova, J, Lukas, M, Kotlas, J, Stekrova, J

    Published in Neoplasma
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  5. 5
    Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report

    Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report by Elisakova, Veronika, Merta, Miroslav, Reiterova, Jana, Baxova, Alica, Kotlas, Jaroslav, Hirschfeldova, Katerina, Obeidova, Lena, Tesar, Vladimir, Stekrova, Jitka

    Published in BMC nephrology
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  6. 6
    Abstract: P372 AN INTERPLAY BETWEEN A COMMON ABCA1 POLYMORPHISM AND APOE ISOFORMS IN HDL LEVELS DETERMINATION

    Abstract: P372 AN INTERPLAY BETWEEN A COMMON ABCA1 POLYMORPHISM AND APOE ISOFORMS IN HDL LEVELS DETERMINATION by Hirschfeldova, K, Sedova, M, Vrablik, M, Svobodova, H, Zvarova, J, Hubacek, J, Ceska, R

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  7. 7
    Abstract: P358 APOLIPOPROTEIN A5 AND E GENE VARIANTS DETERMINE THE EFFICACY OF STATIN TREATMENT

    Abstract: P358 APOLIPOPROTEIN A5 AND E GENE VARIANTS DETERMINE THE EFFICACY OF STATIN TREATMENT by Vrablik, M, Hubacek, J, Adamkova, V, Lanska, V, Hirschfeldova, K, Zlatohlavek, L, Stulc, T, Horinek, A, Prusikova, M, Ceska, R

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