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Cureus|July 25, 2025
Mutation of NDUFAF2 Linked to Mitochondrial Complex I DeficiencyAnwar R Alhamad, Aziza Mushiba, Huda Alkhawaja, et al.Clinical Genetics|December 26, 2024
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal DefectsNaif A M Almontashiri, Aziza Mushiba, Haya Alruqi, et al.Clinical Genetics|June 21, 2026
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the LiteratureWafaa Alharbi, Abdul A Peer-Zada, Abeer S Alaqidi, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|September 20, 2024
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophyEnam Danish, Amal Alhashem, Nada Naaman, et al.Clinical Case Reports|August 1, 2025
Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel ReportYazeed Alayed, Aziza Mushiba, Soha Tashkandi, et al.JIMD Reports|October 6, 2017
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase DeficiencyAbdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, et al.Clinical Genetics|July 9, 2025
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature ReviewAreej Alatawi, Omamah Alshehri, Aminah Alessa, et al.American Journal of Human Genetics|January 16, 2026
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disordersJesse M Levine, Daniel G Calame, Riccardo Sangermano, et al.Research Square|February 27, 2026
Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophyKeri-Lyn Kozul, Ali AlAsmari, Essa Alharby, et al.Pageof 1