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
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Rodríguez-García ME et al.
Neurogenetics, 2016
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.
Lumish HS et al.
Jimd Reports, 2014
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Roesch S et al.
Molecular Genetics and Metabolism, 0
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