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Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A, Mor-Shaked H, Shoseyov D, Reiter J, Tsabari R, Hevroni A, Cohen-Cymberknoh M, Amirav I, Brammli-Greenberg S, Horani A, Kerem E, Breuer O. Gileles-Hillel A, et al. Among authors: tsabari r. ERJ Open Res. 2020 Dec 21;6(4):00213-2020. doi: 10.1183/23120541.00213-2020. eCollection 2020 Oct. ERJ Open Res. 2020. PMID: 33447612 Free PMC article.
Ivacaftor for the p.Ser549Arg (S549R) gating mutation - The Israeli experience.
Dagan A, Cohen-Cymberknoh M, Shteinberg M, Levine H, Vilozni D, Bezalel Y, Bar Aluma BE, Sarouk I, Ashkenazi M, Lavie M, Tsabari R, Blau H, Kerem E, Bentur L, Efrati O, Livnat G. Dagan A, et al. Among authors: tsabari r. Respir Med. 2017 Oct;131:225-228. doi: 10.1016/j.rmed.2017.08.026. Epub 2017 Sep 1. Respir Med. 2017. PMID: 28947035 Free article.
Ivacaftor in People with Cystic Fibrosis and a 3849+10kb CT or D1152H Residual Function Mutation.
Kerem E, Cohen-Cymberknoh M, Tsabari R, Wilschanski M, Reiter J, Shoseyov D, Gileles-Hillel A, Pugatsch T, Davies JC, Short C, Saunders C, DeSouza C, Sullivan JC, Doyle JR, Chandarana K, Kinnman N. Kerem E, et al. Among authors: tsabari r. Ann Am Thorac Soc. 2021 Mar;18(3):433-441. doi: 10.1513/AnnalsATS.202006-659OC. Ann Am Thorac Soc. 2021. PMID: 33095038 Free PMC article. Clinical Trial.
How abnormal is the normal? Clinical characteristics of CF patients with normal FEV1.
Cohen-Cymberknoh M, Ben Meir E, Gartner S, Reiter J, Spangenberg A, Garriga L, Eisenstadt I, Israeli T, Tsabari R, Shoseyov D, Gileles-Hillel A, Breuer O, Simanovsky N, Kerem E. Cohen-Cymberknoh M, et al. Among authors: tsabari r. Pediatr Pulmonol. 2021 Jul;56(7):2007-2013. doi: 10.1002/ppul.25371. Epub 2021 Mar 26. Pediatr Pulmonol. 2021. PMID: 33704929
39 results