Muhammad Talal Alrifai
King Saud bin Abdulaziz University for Health Sciences(SA)National Guard Health Affairs(SA)
Publications by Year
Research Areas
Epilepsy research and treatment, Neonatal and fetal brain pathology, Metabolism and Genetic Disorders, Pharmacological Effects and Toxicity Studies, Genomics and Rare Diseases
Most-Cited Works
- → Nontraumatic Brain Hemorrhage in Children: Etiology and Presentation(2000)151 cited
- → A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield(2017)90 cited
- → ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies(2013)85 cited
- → Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening(2019)65 cited
- → Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism(2015)55 cited
- → Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans(2016)45 cited
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