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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: al otaibi a. 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
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Alharby E, Faqeih EA, Saleh M, Alameer S, Almuntashri M, Pastore A, Samman MA, Alnawfal AM, Hashem M, Zaytuni D, Alharbi G, Almannai M, Alasmari A, Mahmoud AA, Alwadei AH, Jad L, AlOtaibi A, Al-Hakami F, Eyaid W, Alkuraya FS, Alfadhel M, Peake RWA, Almontashiri NAM. Alharby E, et al. Genet Med. 2020 Dec;22(12):2071-2080. doi: 10.1038/s41436-020-0919-x. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741967 Free article.
Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep in Saudi Arabia: Electroclinical, etiologic, genetic, and outcome multicenter study.
Alsini H, Alghamdi A, Alshafi S, Hundallah K, Almehmadi S, Alsowat D, Al-Yamani S, Almuzaini H, Alwadie A, Al-Otaibi A, Jad L, Almadhi A, Bashiri F, Kentab A, Hamad MH, Baarmah D, Alrifaie M, Almuqbel M, Baradie RA, Meer A, Jan M, Muthaffar O, Aljabri M, Ali E, Saeed M, Matar A, Tabarki B. Alsini H, et al. Seizure. 2023 Apr;107:146-154. doi: 10.1016/j.seizure.2023.04.013. Epub 2023 Apr 13. Seizure. 2023. PMID: 37062196 Free article.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Clin Genet. 2022 May;101(5-6):530-540. doi: 10.1111/cge.14132. Epub 2022 Apr 12. Clin Genet. 2022. PMID: 35322404 Free PMC article.
Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement.
Bashiri FA, Hundallah K, Al-Baradie R, Al-Otaibi A, Ismayl O, AlMalik ME, Muthaffar OY, Futaisi AA, Kurdi D, Tawari AA, AlSowat D, Shafi SA, Ali A, AlHajjar LM, Aldakhil A. Bashiri FA, et al. Among authors: al otaibi a. Seizure. 2024 Apr;117:174-182. doi: 10.1016/j.seizure.2024.02.015. Epub 2024 Feb 23. Seizure. 2024. PMID: 38432081 Free article. Review.
138 results