2 results match your criteria: "aishamsi@tawamhospital.ae.[Affiliation]"
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
J Mol Neurosci
November 2015
Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.
Intellectual disability (ID) is a major public health burden on most societies with significant socioeconomic costs. It has been shown that genetic mutations in numerous genes are responsible for a proportion of hereditary forms of ID. NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5).
View Article and Find Full Text PDFTransaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Eur J Pediatr
May 2015
Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, 17666, United Arab Emirates,