Found: 3

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  • A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290.

    Published in:
    Genes, 2020, v. 11, n. 11, p. 1240, doi. 10.3390/genes11111240
    By:
    • Rafalska, Agnieszka;
    • Tracewska, Anna M.;
    • Turno-Kręcicka, Anna;
    • Szafraniec, Milena J.;
    • Misiuk-Hojło, Marta
    Publication type:
    Article

  • Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

    Published in:
    Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959
    By:
    • Tracewska, Anna M.;
    • Kocyła-Karczmarewicz, Beata;
    • Rafalska, Agnieszka;
    • Murawska, Joanna;
    • Jakubaszko-Jablonska, Joanna;
    • Rydzanicz, Małgorzata;
    • Stawiński, Piotr;
    • Ciara, Elżbieta;
    • Khan, Muhammad Imran;
    • Henkes, Arjen;
    • Hoischen, Alexander;
    • Gilissen, Christian;
    • van de Vorst, Maartje;
    • Cremers, Frans P. M.;
    • Płoski, Rafał;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article

  • Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

    Published in:
    Molecular Vision, 2021, v. 27, p. 457
    By:
    • Tracewska, Anna M.;
    • Kocyła-Karczmarewicz, Beata;
    • Rafalska, Agnieszka;
    • Murawska, Joanna;
    • Jakubaszko-Jabłońska, Joanna;
    • Rydzanicz, Małgorzata;
    • Stawiński, Piotr;
    • Ciara, Elżbieta;
    • Lipska-Ziętkiewicz, Beata S.;
    • Khan, Muhammad Imran;
    • Cremers, Frans P. M.;
    • Płoski, Rafał;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article