Identification of a novel protein truncating mutation p.Asp98 in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Published in Molecular genetics & genomic medicine (01.02.2020)
Published in Molecular genetics & genomic medicine (01.02.2020)
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An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon
Schaflinger, Erich, Blatterer, Jasmin, Khan, Aiman Saeed, Kaufmann, Lukas, Auinger, Lisa, Tatrai, Benjamin, Abbasi, Sumra Wajid, Zeeshan Ali, Muhammad, Abbasi, Ansar Ahmad, Al Kaissi, Ali, Petek, Erwin, Wagner, Klaus, Ahmad Khan, Muzammil, Windpassinger, Christian
Published in Gene (30.07.2022)
Published in Gene (30.07.2022)
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The expanded Global Registry of Acute Coronary Events: Baseline characteristics, management practices, and hospital outcomes of patients with acute coronary syndromes
Goodman, Shaun G., MD, MSc, Huang, Wei, MS, Yan, Andrew T., MD, Budaj, Andrzej, MD, PhD, Kennelly, Brian M., MD, PhD, Gore, Joel M., MD, Fox, Keith A.A., MB, ChB, FRCP, Goldberg, Robert J., PhD, Anderson, Frederick A., PhD
Published in The American heart journal (01.08.2009)
Published in The American heart journal (01.08.2009)
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Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability
Ahmed, Jamshaid, Windpassinger, Christian, Salim, Muhammad, Wiener, Magdalena, Petek, Erwin, Schaflinger, Erich, Taj, Sundus, Hussain, Saddam, Abbas, Safdar, Abbas, Muhammad, Younis, Itezaz, Muhammad, Noor, Khan, Saadullah, Khan, Muzammil Ahmad
Published in Journal of the Pakistan Medical Association (01.12.2019)
Published in Journal of the Pakistan Medical Association (01.12.2019)
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