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Year Number of Results
1992 1
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2000 2
2001 3
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2003 1
2004 1
2005 1
2006 1
2007 1
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2017 2
2019 4
2020 3
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32 results

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Page 1
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: leibu r. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Induction of retinopathy by fibrillar oxalate assemblies.
Zaguri D, Shaham-Niv S, Naaman E, Mimouni M, Magen D, Pollack S, Kreiser T, Leibu R, Rencus-Lazar S, Adler-Abramovich L, Perlman I, Gazit E, Zayit-Soudry S. Zaguri D, et al. Among authors: leibu r. Commun Chem. 2020 Jan 3;3(1):2. doi: 10.1038/s42004-019-0247-8. Commun Chem. 2020. PMID: 36703385 Free PMC article.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Ben Yosef T, Banin E, Chervinsky E, Shalev SA, Leibu R, Mezer E, Rotenstreich Y, Goldenberg-Cohen N, Weiss S, Khan MI, Panneman DM, Hitti-Malin RJ, Weiner C, Roosing S, Cremers FPM, Pras E, Zur D, Newman H, Deitch I, Sharon D, Ehrenberg M. Ben Yosef T, et al. Among authors: leibu r. Mol Vis. 2023 Apr 22;29:1-12. eCollection 2023. Mol Vis. 2023. PMID: 37287645 Free PMC article.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Kurolap A, et al. Among authors: leibu r. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1. Am J Hum Genet. 2022. PMID: 35108495 Free PMC article.
Haptoglobin phenotype and diabetic nephropathy.
Nakhoul FM, Zoabi R, Kanter Y, Zoabi M, Skorecki K, Hochberg I, Leibu R, Miller B, Levy AP. Nakhoul FM, et al. Among authors: leibu r. Diabetologia. 2001 May;44(5):602-4. doi: 10.1007/s001250051666. Diabetologia. 2001. PMID: 11380078
32 results