Works matching IS 16414640 AND DT 2017 AND VI 55 AND IP 3


Results: 12
    1

    Posters.

    Published in:
    Folia Neuropathologica, 2017, v. 55, n. 3, p. 259, doi. 10.5114/fn.2017.70491
    Publication type:
    Article
    2

    Oral Presentations.

    Published in:
    Folia Neuropathologica, 2017, v. 55, n. 3, p. 251, doi. 10.5114/fn.2017.70491
    Publication type:
    Article
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    A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

    Published in:
    Folia Neuropathologica, 2017, v. 55, n. 3, p. 214, doi. 10.5114/fn.2017.70486
    By:
    • Koppolu, Agnieszka A.;
    • Madej-Pilarczyk, Agnieszka;
    • Rydzanicz, Małgorzata;
    • Kosińska, Joanna;
    • Gasperowicz, Piotr;
    • Dorszewska, Jolanta;
    • Kozubski, Wojciech;
    • Steinborn, Barbara;
    • Kochański, Andrzej M.;
    • Płoski, Rafał
    Publication type:
    Article
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