Almundher Al‐Maawali
Sultan Qaboos University Hospital(OM)Sultan Qaboos University(OM)
Publications by Year
Research Areas
RNA modifications and cancer, Genetics and Neurodevelopmental Disorders, RNA and protein synthesis mechanisms, Genomics and Rare Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Complex II deficiency—A case report and review of the literature(2013)86 cited
- → Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination(2015)79 cited
- → Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits(2018)72 cited
- → Teratogenicity of angiotensin converting enzyme inhibitors or receptor blockers(2011)71 cited
- → Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures(2015)49 cited
- → Diagnostic Approach to Childhood-Onset Cerebellar Atrophy(2012)44 cited
- → THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder