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Abeer Al-Mostafa

7

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Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

2017 Molecular genetics and metabolism reports
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Twenty novel mutations in , and genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.

2017 Molecular genetics and metabolism reports
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Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.

2015 European Journal of Medical Genetics
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Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

2014
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Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

2012 Genetics in Medicine
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A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

2011 BMC Medical Genetics
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Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.

2011
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