Eissa A. Faqeih
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 142 publications
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.
Journal: Research square
Published: February 27, 2026
A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.
Journal: Molecular genetics and metabolism reports
Published: December 03, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.
Journal: Frontiers in genetics
Published: October 04, 2025
Saul Wilson Syndrome: A Case Report With New Features in Saudi Arabia.
Journal: Clinical case reports
Published: August 12, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.
Journal: Clinical genetics
Published: June 01, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Journal: Genome medicine
Published: April 24, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Journal: PloS one
Published: March 20, 2025
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.
Journal: American journal of medical genetics. Part A
Published: October 13, 2024
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Journal: American journal of human genetics
Published: October 08, 2024
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Journal: Clinical immunology (Orlando, Fla.)
Published: June 11, 2024
Last Updated: 09/26/2026