Search Results - Christian Windpassinger

  • Showing 1 - 3 results of 3
Refine Results
  1. 1

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

    Published in American Journal of Perinatology Reports (2015-03-01)
    Get full text
    Article


  2. 2

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

    Published in Molecular Genetics & Genomic Medicine (2020-02-01)
    Get full text
    Article


  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 by Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger

    Published in Molecular Genetics & Genomic Medicine (2019-08-01)
    Get full text
    Article


Search Tools: