Associated Papers
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
40868553 (PubMed )
Supplement: children-12-01102-s001.zip › children-3727203-supplementary.pdf
A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.
Muthaffar OY et al.
Frontiers in Pediatrics, 2023
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0
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