Optic neuropathy in classical methylmalonic acidemia

Authors: AlOwain, Mohammed, Khalifa, Ola Ali, Al Sahlawi, Zahra, Hussein, Maged H, Sulaiman, Raashda A, Al-Sayed, Moeen, Rahbeeni, Zuhair, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Nezzar, Hachemi, Al Homoud, Iftetah, Eldali, Abdelmoneim, Altonen, Brian, Handoom, Bedour S, Mbekeani, Joyce N

Source: Ophthalmic genetics. 40(4):313-322

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100089530366.0x000001&indx=1&recIds=ETOCvdc_100089530366.0x000001

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

Authors: Redha, Noor, Al-Sahlawi, Zahra, Hasan, Hasan, Ghareeb, Sara, Humaidan, Hani

Source: Journal of Central Nervous System Disease; 3/27/2024, p1-9, 9p

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

Authors: Khalifa, Ola, Al-Sahlawi, Zahra, Imtiaz, Faiqa, Ramzan, Khushnooda, Allam, Rabab, Al-Mostafa, Abeer, Abdel-Fattah, Maaly, Abuharb, Gheid, Nester, Michael, Verloes, Alain, Al-Zaidan, Hamad

Source: In European Journal of Medical Genetics May 2015 58(5):293-299

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