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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD. Riley LG, et al. Among authors: farah r. Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19. Haematologica. 2018. PMID: 30026338 Free PMC article.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Among authors: farah r. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M. Ferraresi P, et al. Among authors: farah r. Haematologica. 2020 Mar;105(3):829-837. doi: 10.3324/haematol.2019.217539. Epub 2019 Jul 4. Haematologica. 2020. PMID: 31273093 Free PMC article.
Collaborative Pediatric Bone Tumor Program to Improve Access to Specialized Care: An Initiative by the Lebanese Children's Oncology Group.
Saab R, Merabi Z, Abboud MR, Muwakkit S, Noun P, Gemayel G, Bechara E, Khalifeh H, Farah R, Kabbara N, El-Khoury T, Al-Yousef R, Haidar R, Saghieh S, Eid T, Akel S, Khoury N, Bayram L, Krasin MJ, Jeha S, El-Solh H. Saab R, et al. Among authors: farah r. J Glob Oncol. 2016 May 18;3(1):23-30. doi: 10.1200/JGO.2016.003103. eCollection 2017 Feb. J Glob Oncol. 2016. PMID: 28717738 Free PMC article.
Establishment of a formal program for retinoblastoma: Feasibility of clinical coordination across borders and impact on outcome.
Al-Haddad C, Bashour Z, Farah L, Bayram L, Merabe Z, Ma'luf R, Alameddine R, Eid T, Geara F, Wilson M, Brennan R, Jeha S, Ghanem K, Yousef RA, Farah R, Noun P, Yassine N, Inati A, Muwakkit S, Abboud M, Tarek N, Hamideh D, Saab R. Al-Haddad C, et al. Among authors: farah r, farah l. Pediatr Blood Cancer. 2019 Nov;66(11):e27959. doi: 10.1002/pbc.27959. Epub 2019 Aug 18. Pediatr Blood Cancer. 2019. PMID: 31423715
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Mehawej C, et al. Among authors: farah ra. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29095483
493 results