Sara O. Musa
Doha, DA, Qatar
Last Updated: 09/26/2026
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Found 12 publications
The obstetric hematology joint clinic in Qatar: experience since 2020.
Journal: Therapeutic advances in reproductive health
Published: October 01, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Journal: International journal of neonatal screening
Published: April 20, 2025
Qatar's genetic counseling landscape: Current insights and future prospects.
Journal: Genetics in medicine open
Published: January 31, 2024
Refractory Hyperammonemic encephalopathy in Fibrolamellar hepatocellular carcinoma, a case report and literature review.
Journal: Current problems in cancer
Published: March 11, 2022
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Journal: American journal of medical genetics. Part A
Published: June 24, 2021
Gene therapy for spinal muscular atrophy: the Qatari experience.
Journal: Gene therapy
Published: December 08, 2020
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Journal: American journal of medical genetics. Part A
Published: May 19, 2020
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Journal: American journal of medical genetics. Part A
Published: October 20, 2018
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Journal: Journal of inherited metabolic disease
Published: October 07, 2018
Clinical genetics and genomic medicine in Qatar.
Journal: Molecular genetics & genomic medicine
Published: August 20, 2018
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Journal: American journal of medical genetics. Part A
Published: June 24, 2018
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients.
Journal: JIMD reports
Published: September 05, 2017
Showing 1-12 of 12
Last Updated: 09/26/2026