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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.
Lindner M, Abdoh G, Fang-Hoffmann J, Shabeck N, Al-Sayrafi M, Al-Janahi M, Ho S, Abdelrahman MO, Ben-Omran T, Bener A, Schulze A, Al-Rifai H, Al-Thani G, Hoffmann GF. Lindner M, et al. J Inherit Metab Dis. 2007 Aug;30(4):522-9. doi: 10.1007/s10545-007-0553-7. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17510756
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.
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.
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.
133 results