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Year Number of Results
2014 3
2015 2
2016 1
2017 1
2018 1
2020 4
2021 6
2022 10
2023 14
2024 21
2025 3

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59 results

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Page 1
Epilepsia partialis continua: A review.
Muthaffar OY, Alyazidi AS. Muthaffar OY, et al. Neurosciences (Riyadh). 2024 May;29(2):71-76. doi: 10.17712/nsj.2024.2.20230074. Neurosciences (Riyadh). 2024. PMID: 38740401 Free PMC article. Review.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Uguen K, Frey T, Muthaffar O, Décarie JC, Ameziane N, Boissel S, Baradaran-Heravi Y, Rauch A, Oprea G, Rad A, Steindl K, Michaud JL. Uguen K, et al. Among authors: muthaffar o. Brain Commun. 2024 Nov 16;6(6):fcae408. doi: 10.1093/braincomms/fcae408. eCollection 2024. Brain Commun. 2024. PMID: 39574431 Free PMC article.
MED23 pathogenic variant: genomic-phenotypic analysis.
Bamaga A, Muthaffar O, Alyazidi A, Bahowarth S, Shawli M, Alotibi F, Alsehemi M, Almohammal M, Alawwadh A, Alghamdi N. Bamaga A, et al. Among authors: muthaffar o. J Med Life. 2024 May;17(5):500-507. doi: 10.25122/jml-2024-0065. J Med Life. 2024. PMID: 39144687 Free PMC article.
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Berger E, Jauss RT, Ranells JD, Zonic E, von Wintzingerode L, Wilson A, Wagner J, Tuttle A, Thomas-Wilson A, Schulte B, Rabin R, Pappas J, Odgis JA, Muthaffar O, Mendez-Fadol A, Lynch M, Levy J, Lehalle D, Lake NJ, Krey I, Kozenko M, Knierim E, Jouret G, Jobanputra V, Isidor B, Hunt D, Hsieh TC, Holtz AM, Haack TB, Gold NB, Dunstheimer D, Donge M, Deb W, De La Rosa Poueriet KA, Danyel M, Christodoulou J, Chopra S, Callewaert B, Busche A, Brick L, Bigay BG, Arlt M, Anikar SS, Almohammal MN, Almanza D, Alhashem A, Bertoli-Avella A, Sticht H, Abou Jamra R. Berger E, et al. Among authors: muthaffar o. Genet Med. 2025 May;27(5):101326. doi: 10.1016/j.gim.2024.101326. Epub 2024 Nov 12. Genet Med. 2025. PMID: 39540377 Free article.
Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Almuqbil MA, Tabassum S, Muthaffar OY, Ghamdi F, Al Masseri Z, Alsaman A, Alkhater RA. Almuqbil MA, et al. Among authors: muthaffar oy. Ann Clin Transl Neurol. 2024 Apr;11(4):1063-1066. doi: 10.1002/acn3.52020. Epub 2024 Feb 22. Ann Clin Transl Neurol. 2024. PMID: 38389300 Free PMC article.
Neuro-pediatric emergencies: clinical profile and outcomes.
Khojah I, Muthaffar O, Alalawi H, Alyazidi A, Alghamdi M, Alharbi O, Almuharib L, Salem M. Khojah I, et al. Among authors: muthaffar o. J Med Life. 2024 Apr;17(4):432-441. doi: 10.25122/jml-2023-0476. J Med Life. 2024. PMID: 39071508 Free PMC article.
59 results