Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
Gururaj A et al.
Journal of Child Neurology, 2005
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T et al.
Human Mutation, 2004
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