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

Year Number of Results
2008 9
2009 9
2010 4
2011 3
2012 5
2013 10
2014 11
2015 5
2016 3
2017 2
2018 2
2020 3
2022 2
2023 5
2024 3

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60 results

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Page 1
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: kurul sh. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
Bayram E, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH. Bayram E, et al. Among authors: kurul sh. Eur J Paediatr Neurol. 2013 Jan;17(1):1-6. doi: 10.1016/j.ejpn.2012.10.003. Epub 2012 Oct 31. Eur J Paediatr Neurol. 2013. PMID: 23122324 Review.
Chronic spinal epidural hematoma.
Yiş U, Kalemci O, Polat I, Karaoğlu P, Oztura I, Güleryüz H, Kurul SH. Yiş U, et al. Among authors: kurul sh. J Pediatr. 2014 Jan;164(1):215-215.e1. doi: 10.1016/j.jpeds.2013.08.043. Epub 2013 Oct 8. J Pediatr. 2014. PMID: 24119875 No abstract available.
Schwartz-Jampel syndrome with gastroduodenal bleeding.
Polat İ, Karaoğlu P, Yiş U, Kurul SH. Polat İ, et al. Among authors: kurul sh. J Pediatr Neurosci. 2016 Jul-Sep;11(3):255-257. doi: 10.4103/1817-1745.193351. J Pediatr Neurosci. 2016. PMID: 27857801 Free PMC article.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: kurul sh. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Direk MÇ, Besen Ş, Öncel İ, Günbey C, Özdoğan O, Orgun LT, Sahin S, Cansu A, Yıldız N, Kanmaz S, Yılmaz S, Tekgül H, Türkdoğan D, Ünver O, Thomas GÖ, Başıbüyük S, Yılmaz D, Kurt AN, Gültutan P, Özsoy Ö, Yiş U, Kurul SH, Güngör S, Özgör B, Karadağ M, Dündar NO, Gençpınar P, Bildik O, Orak SA, Kabur ÇÇ, Kara B, Karaca Ö, Canpolat M, Gümüş H, Per H, Yılmaz Ü, Karaoğlu P, Ersoy Ö, Tosun A, Öztürk SB, Yüksel D, Atasoy E, Gücüyener K, Yıldırım M, Bektaş Ö, Çavuşoğlu D, Yarar Ç, Güngör O, Mert GG, Sarıgeçili E, Edizer S, Çetin İD, Aydın S, Diler B, Özdemir AA, Erol İ, Okuyaz Ç, Anlar B. Direk MÇ, et al. Among authors: kurul sh. Mult Scler Relat Disord. 2024 Jan;81:105149. doi: 10.1016/j.msard.2023.105149. Epub 2023 Nov 26. Mult Scler Relat Disord. 2024. PMID: 38096730
Double Trouble: A Case of DYT-TOR1A Diagnosed in the Postoperative Period.
Uzan GS, Günay Ç, Kurul SH, Yiş U. Uzan GS, et al. Among authors: kurul sh. Ann Indian Acad Neurol. 2023 Jul-Aug;26(4):578-580. doi: 10.4103/aian.aian_39_23. Epub 2023 Sep 11. Ann Indian Acad Neurol. 2023. PMID: 37970319 Free PMC article. No abstract available.
60 results