All Stories

  1. HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

    Article • Clinical Genetics, August 2022, Wiley

    Zahra Alsahlawi

  2. Optic neuropathy in classical methylmalonic acidemia

    Article • Ophthalmic Genetics, July 2019, Taylor & Francis

    ZUHAIR Rahbeeni, Hachemi Nezzar, Zahra Alsahlawi