Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

by Rula Y Qumsieh, Bassam R Ali, Yousef M Abdulrazzaq, Ossama Osman, Nadia A Akawi, Salim M A Bastaki
Published 2011-01-01

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

by Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali
Published 2016-10-01

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

by Bassam R Ali, Imen Ben-Rebeh, Anne John, Nadia A Akawi, Reham M Milhem, Nouf A Al-Shehhi, Mouza M Al-Ameri, Shamma A Al-Shamisi, Lihadh Al-Gazali
Published 2011-01-01