Faten Almutairi
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Metalloenzymes and iron-sulfur proteins, Parkinson's Disease Mechanisms and Treatments, Cardiac electrophysiology and arrhythmias
Most-Cited Works
- → Molecular and clinical spectra of FBXL4 deficiency(2017)55 cited
- → Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking(2021)50 cited
- → Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases(2017)27 cited
- → KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability(2016)26 cited
- → Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination(2019)23 cited
- → A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature(2017)21 cited
- → Identification of novel genomic imbalances in Saudi patients with congenital heart disease(2018)9 cited
- → The Effect of Cosmetic Talc Powder on Health(2019)3 cited