Hasil Pencarian - Christian Windpassinger

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  1. 1
    Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

    Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature oleh Stefan Kurath-Koller, Bernhard Resch, Raimund Kraschl, Christian Windpassinger, Ernst Eber

    Diterbitkan 2015-03-01
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  2. 2
    Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

    Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family oleh Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger

    Diterbitkan 2020-02-01
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  3. 3
    Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene

    Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene oleh Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger

    Diterbitkan 2019-08-01
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  4. 4
    Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).

    Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5). oleh Ivana Poparic, Wolfgang Schreibmayer, Benedikt Schoser, Gernot Desoye, Astrid Gorischek, Heidi Miedl, Sonja Hochmeister, Josepha Binder, Stefan Quasthoff, Klaus Wagner, Christian Windpassinger, Ernst Malle

    Diterbitkan 2011-01-01
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