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Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Among authors: reish o. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.
Shohat M, Frimer H, Shohat-Levy V, Esmailzadeh H, Appelman Z, Ben-Neriah Z, Dar H, Orr-Urtreger A, Amiel A, Gershoni R, Manor E, Barkai G, Shalev S, Gelman-Kohen Z, Reish O, Lev D, Davidov B, Goldman B. Shohat M, et al. Among authors: reish o. Am J Med Genet A. 2003 Oct 15;122A(3):215-22. doi: 10.1002/ajmg.a.20246. Am J Med Genet A. 2003. PMID: 12966521
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: reish o, o callaghan c. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L. Boissel S, et al. Among authors: reish o, o rahilly s. Am J Hum Genet. 2009 Jul;85(1):106-11. doi: 10.1016/j.ajhg.2009.06.002. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559399 Free PMC article.
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.
Stoupel EG, Frimer H, Appelman Z, Ben-Neriah Z, Dar H, Fejgin MD, Gershoni-Baruch R, Manor E, Barkai G, Shalev S, Gelman-Kohan Z, Reish O, Lev D, Davidov B, Goldman B, Shohat M. Stoupel EG, et al. Among authors: reish o. Int J Biometeorol. 2005 Sep;50(1):1-5. doi: 10.1007/s00484-005-0274-2. Epub 2005 Jun 30. Int J Biometeorol. 2005. PMID: 15988607
Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, Kaplan Y, Dvir A, Barnes-Kedar I, Kadouri L, Semenisty V, Efrat N, Neiman V, Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Golan T, Reish O, Hubert A, Safra T, Yaron Y, Friedman E. Yablonski-Peretz T, et al. Among authors: reish o. Breast Cancer Res Treat. 2016 Jan;155(1):133-8. doi: 10.1007/s10549-015-3662-2. Epub 2015 Dec 19. Breast Cancer Res Treat. 2016. PMID: 26687385
83 results