Browsing Biomedical Sciences by Subject "genetics"

Now showing items 1-2 of 2

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Zaki, Osama K; Priya Doss C, George; Ali, Salsabil A; Murad, Ghadeer G; Elashi, Shaima A; Ebnou, Maryam S A; Kumar D, Thirumal; Khalifa, Ola; Gamal, Radwa; El Abd, Heba S A; Nasr, Bilal N; Zayed, Hatem... more authors ... less authors ( Oxford University Press (OUP) , 2017 , Article)
Isovaleric acidaemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight ...
Qatar genome: Insights on genomics from the Middle East

Mbarek, Hamdi; Devadoss Gandhi, Geethanjali; Selvaraj, Senthil; Al-Muftah, Wadha; Badji, Radja; Al-Sarraj, Yasser; Saad, Chadi; Darwish, Dima; Alvi, Muhammad; Fadl, Tasnim; Yasin, Heba; Alkuwari, Fatima; Razali, Rozaimi; Aamer, Waleed; Abbaszadeh, Fatemeh; Ahmed, Ikhlak; Mokrab, Younes; Suhre, Karsten; Albagha, Omar; Fakhro, Khalid; Badii, Ramin; Ismail, Said I.; Althani, Asma... more authors ... less authors ( Wiley , 2022 , Article)
Despite recent biomedical breakthroughs and large genomic studies growing momentum, the Middle Eastern population, home to over 400 million people, is underrepresented in the human genome variation databases. Here we ...