Tawfeg Ben Omran

机构：Sidra Medical and Research Center

发表论文 24 篇 · 总被引 344 次 · h-index 7

代表论文

• Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go (2021 · Neuromuscular Disorders · 被引 178)
• The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group (2015 · JIMD Reports · 被引 64)
• Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar (2019 · Human Molecular Genetics · 被引 28)
• Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders (2017 · Journal of Inherited Metabolic Disease · 被引 19)
• Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region (2022 · Orphanet Journal of Rare Diseases · 被引 12)
• Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency (2024 · Journal of Clinical Immunology · 被引 11)