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Page 1
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H. Marom D, et al. Among authors: reish o. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum R, Ezer S, Lotan NS, Eilat A, Sternlicht K, Benyamini L, Reish O, Falik-Zaccai T, Ben-Gad G, Rod R, Segel R, Kim K, Burton B, Keegan CE, Wagner M, Henderson LB, Mor N, Barel O, Hirsch Y, Meiner V, Elpeleg O, Harel T, Mor-Shakad H. Birnbaum R, et al. Among authors: reish o. J Med Genet. 2024 Feb 21;61(3):289-293. doi: 10.1136/jmg-2023-109504. J Med Genet. 2024. PMID: 37833060
Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.
Laitman Y, Michaelson-Cohen R, Chen-Shtoyerman R, Goldberg Y, Reish O, Bernstein-Molho R, Levy-Lahad E, Baruch NEB, Kedar I, Evans DG, Haim S, Paluch-Shimon S, Friedman E. Laitman Y, et al. Among authors: reish o. Fam Cancer. 2021 Jul;20(3):189-194. doi: 10.1007/s10689-020-00216-y. Epub 2020 Nov 9. Fam Cancer. 2021. PMID: 33165727
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. Zaman T, et al. Among authors: reish o. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9. Ann Neurol. 2020. PMID: 32515017 Free PMC article.
Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.
Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer. Laitman Y, et al. Among authors: reish o. Cancer. 2019 Mar 1;125(5):698-703. doi: 10.1002/cncr.31842. Epub 2018 Nov 29. Cancer. 2019. PMID: 30489631 Free article.
Lacosamide for SCN2A-related intractable neonatal and infantile seizures.
Flor-Hirsch H, Heyman E, Livneh A, Reish O, Watemberg N, Litmanovits I, Ben Sason Lilli A, Lev D, Lerman Sagie T, Bassan H. Flor-Hirsch H, et al. Among authors: reish o. Epileptic Disord. 2018 Oct 1;20(5):440-446. doi: 10.1684/epd.2018.1001. Epileptic Disord. 2018. PMID: 30361185
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R. Reish O, et al. Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27060491 Free PMC article.
83 results