The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly
Muzammal, Muhammad, Ali, Muhammad Zeeshan, Ahmad, Safeer, Huma, Shawana, Ahmad, Sohail, Abbasi, Ansar Ahmad, Khan, Saadullah, Khan, Muzammil Ahmad
Published in Journal of the Pakistan Medical Association (01.10.2021)
Published in Journal of the Pakistan Medical Association (01.10.2021)
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Journal Article
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs24) in BBS9 gene
Muzammal, Muhammad, Zubair, Muhammad, Bierbaumer, Sophie, Blatterer, Jasmin, Graf, Ricarda, Gul, Aisha, Abbas, Safdar, Badar, Muhammad, Abbasi, Ansar Ahmad, Khan, Muzammil Ahmad, Windpassinger, Christian
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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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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