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KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Hum Genet. 2023 Mar;142(3):399-405. doi: 10.1007/s00439-022-02513-1. Epub 2022 Dec 23.
Hum Genet. 2023.
PMID: 36564622
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 Mar 7;155:149-155. doi: 10.1016/j.pediatrneurol.2024.03.004. Online ahead of print.
Pediatr Neurol. 2024.
PMID: 38653183
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Identifying Clinical Clues in Children With Global Developmental Delay / Intellectual Disability With Abnormal Brain Magnetic Resonance Imaging (MRI).
Alamri A, Aljadhai YI, Alrashed A, Alfheed B, Abdelmoaty R, Alenazi S, Alhashim A, Benini R.
Alamri A, et al. Among authors: aljadhai yi.
J Child Neurol. 2021 May;36(6):432-439. doi: 10.1177/0883073820977330. Epub 2020 Dec 9.
J Child Neurol. 2021.
PMID: 33295251
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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
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