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Page 1
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Saleh MM, Hamhom AM, Al-Otaibi A, AlGhamdi M, Housawi Y, Aljadhai YI, Alameer S, Almannai M, Jad LA, Alwadei AH, Tabassum S, Alsaman A, AlAsmari A, Al Mutairi F, Althiyab H, Bashiri FA, AlHumaidi S, Alfadhel M, Mink JW, AlHashim A, Faqeih EA; Saudi NCL Study Consortium. Saleh MM, et al. Among authors: aljadhai yi. Pediatr Neurol. 2024 Jun;155:149-155. doi: 10.1016/j.pediatrneurol.2024.03.004. Epub 2024 Mar 7. Pediatr Neurol. 2024. PMID: 38653183
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS. Almannai M, et al. Among authors: aljadhai yi. Hum Genet. 2023 Mar;142(3):399-405. doi: 10.1007/s00439-022-02513-1. Epub 2022 Dec 23. Hum Genet. 2023. PMID: 36564622
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC. Almannai M, et al. Among authors: aljadhai yi. Mol Genet Metab. 2018 Nov;125(3):281-291. doi: 10.1016/j.ymgme.2018.07.014. Epub 2018 Jul 29. Mol Genet Metab. 2018. PMID: 30177229
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS. Almannai M, et al. Among authors: aljadhai yi. Clin Genet. 2018 May;93(5):1097-1102. doi: 10.1111/cge.13210. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29327420