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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. Among authors: singer a. 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.
The new face of cystic fibrosis in the era of population genetic carrier screening.
Dotan M, Blau H, Singer A, Stafler P, Prais D, Cohen-Cymberknoh M, Reiter J, Efrati O, Dagan A, Bentur L, Gur M, Livnat G, Yaacoby-Bianu K, Aviram M, Golan Tripto I, Bar-On O, Matar R, Hagit S, Malcov M, Altarescu G, Segev H, Feldman B, Kerem E, Mei-Zahav M. Dotan M, et al. Among authors: singer a. J Cyst Fibros. 2023 Nov 16:S1569-1993(23)01674-0. doi: 10.1016/j.jcf.2023.11.003. Online ahead of print. J Cyst Fibros. 2023. PMID: 37980178
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Among authors: singer a. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.
1,992 results