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 2020-02-01

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

by Dana A. Muin, Martina Kollmann, Jasmin Blatterer, Gregor Hoermann, Peter W. Husslein, Ingrid Lafer, Erwin Petek, Thomas Schwarzbraun
Published 2021-03-01