Saif Alshahrani
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metalloenzymes and iron-sulfur proteins, Biochemical and Molecular Research, Microtubule and mitosis dynamics, Folate and B Vitamins Research
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue(2016)111 cited
- → Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases(2017)27 cited
- → Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination(2019)23 cited
- → Cybersecurity Awareness Assessment among Trainees of the Technical and Vocational Training Corporation(2023)15 cited
- → A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families(2022)5 cited
- → A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4(2024)2 cited
- → Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype(2021)