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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 3
2008 3
2009 2
2010 1
2013 1
2019 1
2021 6
2022 5
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19 results
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Page 1
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A, Shor O, Fellner A, Hellmann MA, Pras E, Yonath H, Shkedi-Rafid S, Basel-Salmon L, Bazak L, Eliahou R, Greenbaum L, Stiebel-Kalish H, Benninger F, Goldberg Y. Wilf-Yarkoni A, et al. Among authors: shor o. Neurol Genet. 2021 Mar 19;7(2):e578. doi: 10.1212/NXG.0000000000000578. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33763535 Free PMC article.
Paroxysmal slow wave events predict epilepsy following a first seizure.
Zelig D, Goldberg I, Shor O, Ben Dor S, Yaniv-Rosenfeld A, Milikovsky DZ, Ofer J, Imtiaz H, Friedman A, Benninger F. Zelig D, et al. Among authors: shor o. Epilepsia. 2022 Jan;63(1):190-198. doi: 10.1111/epi.17110. Epub 2021 Nov 9. Epilepsia. 2022. PMID: 34750812 Free PMC article.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Among authors: shor o. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
19 results