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Page 1
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. Chettle J, et al. Among authors: eliyahu a. HGG Adv. 2024 Aug 30;5(4):100345. doi: 10.1016/j.xhgg.2024.100345. Online ahead of print. HGG Adv. 2024. PMID: 39182167 Free article.
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.
Lempel N, Shelly S, Chorin O, Rock R, Eliyahu A, Finezilber Y, Poran H, Feinstein-Goren N, Segev M, Reznik-Wolf H, Barel O, Orion D, Anis S, Regev M, Yonath H, Dominissini D, Blatt I, Hassin-Baer S, Dori A, Pras E, Greenbaum L. Lempel N, et al. Among authors: eliyahu a. J Neurol Sci. 2024 Aug 15;463:123074. doi: 10.1016/j.jns.2024.123074. Epub 2024 May 31. J Neurol Sci. 2024. PMID: 38968664
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Cho… See abstract for full author list ➔ Lesmann H, et al. Among authors: eliyahu a. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
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: eliyahu a. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Slow release of a synthetic auxin induces formation of adventitious roots in recalcitrant woody plants.
Roth O, Yechezkel S, Serero O, Eliyahu A, Vints I, Tzeela P, Carignano A, Janacek DP, Peters V, Kessel A, Dwivedi V, Carmeli-Weissberg M, Shaya F, Faigenboim-Doron A, Ung KL, Pedersen BP, Riov J, Klavins E, Dawid C, Hammes UZ, Ben-Tal N, Napier R, Sadot E, Weinstain R. Roth O, et al. Among authors: eliyahu a. Nat Biotechnol. 2024 Jan 24. doi: 10.1038/s41587-023-02065-3. Online ahead of print. Nat Biotechnol. 2024. PMID: 38267759
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Shlomovitz O, Atias-Varon D, Yagel D, Barel O, Shasha-Lavsky H, Skorecki K, Eliyahu A, Bathish Y, Frajewicki V, Kushnir D, Zaid R, Paperna T, Ofir A, Tchirkov M, Hassan K, Kruzel E, Khazim K, Geron R, Weisman I, Hanut A, Nakhoul F, Kenig-Kozlovsky Y, Refael G, Antebi A, Storch S, Leiba M, Kagan M, Shukrun R, Rechavi G, Dekel B, Ben Moshe Y, Weiss K, Assady S, Vivante A. Shlomovitz O, et al. Among authors: eliyahu a. Am J Kidney Dis. 2024 Feb;83(2):183-195. doi: 10.1053/j.ajkd.2023.06.006. Epub 2023 Sep 15. Am J Kidney Dis. 2024. PMID: 37717846
39 results