Dima Z. Jamjoom
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 15 publications
TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.
Journal: Molecular genetics and metabolism
Published: October 07, 2025
TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.
Journal: Molecular genetics and metabolism
Published: October 07, 2025
Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.
Journal: American journal of medical genetics. Part A
Published: January 26, 2025
A copy number variant overlapping the 3'UTR of PLP1 causes spastic paraplegia.
Journal: Journal of human genetics
Published: September 09, 2024
Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.
Journal: Frontiers in pediatrics
Published: January 31, 2024
Case report: A late and isolated presentation of meningoencephalomyelitis uncovers a novel pathogenic variant in the CIITA gene.
Journal: Frontiers in pediatrics
Published: July 29, 2023
Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.
Journal: Children (Basel, Switzerland)
Published: July 13, 2022
Association between acute kidney injury and brain injury on term-equivalent age brain magnetic resonance imaging in very preterm infants.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 17, 2021
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.
Journal: Frontiers in genetics
Published: October 31, 2021
Correlation of radiological features of white epidermoid cysts with histopathological findings.
Journal: Scientific reports
Published: August 30, 2021
Association between morphine exposure and impaired brain development on term-equivalent age brain magnetic resonance imaging in very preterm infants.
Journal: Scientific reports
Published: June 25, 2021
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Journal: Clinical genetics
Published: May 19, 2020
Last Updated: 09/26/2026