Search Results - "Jeschko, Niklas"

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  1. 1
    Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

    Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status by Klausegger, Alfred, Jeschko, Niklas, Grammer, Markus, Cemper-Kiesslich, Jan, Neuhuber, Franz, Diem, Anja, Breitenbach-Koller, Hannelore, Sander, Gabriele, Kotzot, Dieter, Bauer, Johann Wolfgang, Laimer, Martin

    Published in Diagnostics (Basel) (11-10-2022)
    “…Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous…”
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  2. 2
    Recessive Dystrophic IEpidermolysis bullosa/I due to Hemizygous 40 kb Deletion of ICOL7A1/I and the Proximate IPFKFB4/I Gene Focusing on the Mutation c.425AG Mimicking Homozygous Status

    Recessive Dystrophic IEpidermolysis bullosa/I due to Hemizygous 40 kb Deletion of ICOL7A1/I and the Proximate IPFKFB4/I Gene Focusing on the Mutation c.425AG Mimicking Homozygous Status by Klausegger, Alfred, Jeschko, Niklas, Grammer, Markus, Cemper-Kiesslich, Jan, Neuhuber, Franz, Diem, Anja, Breitenbach-Koller, Hannelore, Sander, Gabriele, Kotzot, Dieter, Bauer, Johann Wolfgang, Laimer, Ma

    Published in Diagnostics (Basel) (01-10-2022)
    “…Background: Dystrophic Epidermolysis bullosa (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous…”
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    Journal Article
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