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Page 1
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA. Aamer W, et al. Among authors: ben omran t. Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6. Genome Med. 2024. PMID: 38584274 Free PMC article.
Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.
Al-Ashwal A, Alsagheir A, Al Dubayee M, Al-Khnifsawi M, Al-Sarraf A, Awan Z, Ben-Omran T, Al-Yaarubi S, Almutair A, Habeb A, Maatouk F, Alshareef M, Kholaif N, Blom D. Al-Ashwal A, et al. Among authors: ben omran t. J Clin Lipidol. 2024 Mar-Apr;18(2):e132-e141. doi: 10.1016/j.jacl.2023.12.003. Epub 2023 Dec 15. J Clin Lipidol. 2024. PMID: 38158247 Free article. Review.
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Fredwall S, AlSayed M, Ben-Omran T, Boero S, Cormier-Daire V, Fauroux B, Guillén-Navarro E, Innig F, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Pejin Z, Sessa M, Sousa SB, Irving M. Fredwall S, et al. Among authors: ben omran t. Adv Ther. 2024 Jul;41(7):2545-2558. doi: 10.1007/s12325-024-02880-3. Epub 2024 May 15. Adv Ther. 2024. PMID: 38748332 Free PMC article.
Qatar's genetic counseling landscape: Current insights and future prospects.
Abiib S, Khodjet-El-Khil H, El-Akouri K, Bux RI, Rezoug Z, Abualainin W, Alkowari M, Musa SO, Al Mulla M, Al Saleh R, Shahbeck N, Farag M, Ismail SI, Al Sulaiman R, Ben-Omran T, Al-Thani A, Al-Shafai M. Abiib S, et al. Among authors: ben omran t. Genet Med Open. 2024 Jul 6;2(Suppl 2):101866. doi: 10.1016/j.gimo.2024.101866. eCollection 2024. Genet Med Open. 2024. PMID: 39712968 Free PMC article.
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.
Devadoss Gandhi G, Aliyev E, Syed N, Vempalli FR, Saad C, Mbarek H, Al-Saei O, Al-Maraghi A, Abdi M, Krishnamoorthy N, Badii R; Qatar Genome Program Research Consortium; Akil AA, Ben-Omran T, Fakhro KA. Devadoss Gandhi G, et al. Among authors: ben omran t. Genet Med. 2024 Dec;26(12):101268. doi: 10.1016/j.gim.2024.101268. Epub 2024 Sep 14. Genet Med. 2024. PMID: 39286960 Free article.
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: ben omran t. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: ben omran t. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
133 results