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Page 1
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
Aldosary M, Baselm S, Abdulrahim M, Almass R, Alsagob M, AlMasseri Z, Huma R, AlQuait L, Al-Shidi T, Al-Obeid E, AlBakheet A, Alahideb B, Alahaidib L, Qari A, Taylor RW, Colak D, AlSayed MD, Kaya N. Aldosary M, et al. Among authors: abdulrahim m. JIMD Rep. 2021 May 4;60(1):75-87. doi: 10.1002/jmd2.12218. eCollection 2021 Jul. JIMD Rep. 2021. PMID: 34258143 Free PMC article.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Suleiman J, et al. Among authors: abdulrahim m. Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22. Hum Mutat. 2019. PMID: 31209944
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: abdulrahim mm. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Among authors: abdulrahim m. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Among authors: abdulrahim mm. Hum Genomics. 2024 Sep 4;18(1):95. doi: 10.1186/s40246-024-00662-0. Hum Genomics. 2024. PMID: 39232803 Free PMC article.
Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Elsayed LEO, AlHarbi NA, Alqarni AM, Eltayeb HHE, Mostafa NMM, Abdulrahim MM, Zaid HIB, Alanzi LM, Ababtain SA, Aldulaijan K, Aloyouni SY, Othman MAK, Alkheilewi MA, Binduraihem AM, Alrukban HA, Ahmed HY, AlRadini FA, Alahdal HM, Mushiba AM, Alzaher OA. Elsayed LEO, et al. Among authors: abdulrahim mm. Hum Genomics. 2024 Oct 15;18(1):115. doi: 10.1186/s40246-024-00681-x. Hum Genomics. 2024. PMID: 39407347 Free PMC article. No abstract available.
Post-acute COVID-19 condition in Saudi Arabia: A national representative study.
AlRadini FA, Alamri F, Aljahany MS, Almuzaini Y, Alsofayan Y, Khan A, Albogami N, Abdulrahim M, Almogbil A, Alahmari A. AlRadini FA, et al. Among authors: abdulrahim m. J Infect Public Health. 2022 May;15(5):526-532. doi: 10.1016/j.jiph.2022.03.013. Epub 2022 Mar 25. J Infect Public Health. 2022. PMID: 35429791 Free PMC article.
Assessing the safety and effectiveness of endoscopic ultrasound for pediatric hepato-pancreatico-biliary disorders: a systematic review.
Alomari O, Abualkhair KA, Saad K, Magdy S, Omran JA, AlSanafini MM, Hassan LA, ElBasatiny OY, Machane D, Abdulrahim M, Abo-Elmaged HG, Elshaieb M, Elfarargy MS, Elhoufey A, Dailah HG, Sayed AH, Ismail A, Walid B, Hashemy M, Afifi AM, Elgenidy A. Alomari O, et al. Among authors: abdulrahim m. Pediatr Radiol. 2025 Jan 17. doi: 10.1007/s00247-024-06159-1. Online ahead of print. Pediatr Radiol. 2025. PMID: 39821667 Review.
Onyx dilution reduces time to resolution of chronic subdural hematomas after middle meningeal artery embolization.
Hung A, Yang W, Das O, Wang X, Ran K, Ejimogu E, Abdulrahim M, Nakamura R, Hui F, Yedavalli V, Jackson CM, Huang J, Tamargo RJ, Caplan JM, Gonzalez LF, Xu R. Hung A, et al. Among authors: abdulrahim m. J Neurointerv Surg. 2024 Nov 7:jnis-2024-022492. doi: 10.1136/jnis-2024-022492. Online ahead of print. J Neurointerv Surg. 2024. PMID: 39516006
37 results