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Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H, AlDhalaan H, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, AlBakheet A, Alomrani A, Alharbi OA, Tous E, AlSayed M, AlZaidan H, AlRasheed MM, AlOdaib A, Kaya N. AlQudairy H, et al. Among authors: alruways s. Front Pediatr. 2023 Feb 27;10:1051534. doi: 10.3389/fped.2022.1051534. eCollection 2022. Front Pediatr. 2023. PMID: 36923948 Free PMC article.
A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
Aldhalaan H, AlBakheet A, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, Cardona-Londoño KJ, Alahmadi KO, AlQudairy H, AlRasheed MM, Colak D, Arold ST, Kaya N. Aldhalaan H, et al. Among authors: alruways s. Genes (Basel). 2021 Dec 30;13(1):92. doi: 10.3390/genes13010092. Genes (Basel). 2021. PMID: 35052432 Free PMC article.