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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: bar aluma be. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Spontaneous pneumothorax-When do we need to intervene?
Ashkenazi M, Bak A, Sarouk I, Bar Aluma BE, Dagan A, Bezalel Y, Vilozni D, Efrati O. Ashkenazi M, et al. Among authors: bar aluma be. Clin Respir J. 2021 Sep;15(9):967-972. doi: 10.1111/crj.13400. Epub 2021 May 31. Clin Respir J. 2021. PMID: 33998780
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. 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.
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM, Inbar O, Shteinberg M, Gur M, Mussaffi H, Shoseyov D, Ashkenazi M, Alkrinawi S, Bormans C, Hakim F, Mei-Zahav M, Cohen-Cymberknoh M, Dagan A, Prais D, Sarouk I, Stafler P, Bar Aluma BE, Akler G, Picard E, Aviram M, Efrati O, Livnat G, Rivlin J, Bentur L, Blau H, Kerem E, Singer A. Behar DM, et al. Mol Genet Genomic Med. 2017 Feb 19;5(3):223-236. doi: 10.1002/mgg3.278. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546993 Free PMC article.
17 results