Search Results - Koparir, E.

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  1. 1
    01P Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    01P Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions by Sagath, L., Kiiski, K., Naidu, K., Djordjevic, D., Yoon, G., Rogers, C., Scherer, K., Koparir, E., Kunstmann, E., Davis, M., Joshi, P., Zygmunt, A., Bönnemann, C., Biancalana, V., Echaniz-Laguna, A., Beggs, A., Henning, F., Wallgren-Pettersson, C., Pelin, K., Lehtokari, V.

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  2. 2
    Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

    Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type by Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde

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  3. 3
    CONGENITAL MYOPATHIES: GENERAL AND RYR1

    CONGENITAL MYOPATHIES: GENERAL AND RYR1 by Duband-Goulet, I., Catervi, F., Cabet, E., Davignon, L., Genetti, C., Gidaro, T., Koparir, A., Coppen, S., Pierce-Hoffman, E., Beggs, A., Servais, L., Ferreiro, A.

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  4. 4
    CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.47ASC1-related myopathy is associated with defects in myoblast proliferation and muscle growth: defining the phenotypic spectrum and understanding the pathogenesis of an emerging congenital myopathy

    CONGENITAL MYOPATHIES: GENERAL AND RYR1: P.47ASC1-related myopathy is associated with defects in myoblast proliferation and muscle growth: defining the phenotypic spectrum and unde... by Duband-Goulet, I., Catervi, F., Cabet, E., Davignon, L., Genetti, C., Gidaro, T., Koparir, A., Coppen, S., Pierce-Hoffman, E., Beggs, A., Servais, L., Ferreiro, A.

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  5. 5
    P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy

    P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy by Villar-Quiles, R., Duband-Goulet, I., Cabet, E., Davignon, L., Genetti, C., Gidaro, T., Koparir, A., Yuksel, A., Coppens, S., Deconinck, N., Pierce-Hoffman, E., Juntas-Morales, R., Cossée, M., Servais, L., Olivé, M., Beggs, A., Böhm, J., Ferreiro, A.

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  6. 6
    The determination of the effect of some 1,3,4 thiadiazole derivatives on biochemical content (Fatty Acids, Sterols, Lipophilic Vitamins) in rat liver

    The determination of the effect of some 1,3,4 thiadiazole derivatives on biochemical content (Fatty Acids, Sterols, Lipophilic Vitamins) in rat liver by Parlak, Akif E., Karagozoglu, Yusuf, Alayunt, Naci í–., Turkoglu, Semra, Karatepe, Mustafa, Koparir, Metin

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