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Year Number of Results
2013 1
2018 1
2019 2
2020 3
2021 1
2022 4
2023 4
2024 2

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17 results

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Page 1
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. Seizure. 2024 Feb 23;117:174-182. doi: 10.1016/j.seizure.2024.02.015. Online ahead of print. Seizure. 2024. PMID: 38432081 Free article. Review.
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.
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. Among authors: alotaibi a. 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.
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE. Ansar M, et al. Am J Hum Genet. 2019 Nov 7;105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607425 Free PMC article.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Genet Med. 2020 Oct;22(10):1598-1605. doi: 10.1038/s41436-020-0833-2. Epub 2020 May 28. Genet Med. 2020. PMID: 32461667 Free PMC 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.
17 results