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Page 1
Did you mean urkdogan d[au] (804 results)?
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gu… See abstract for full author list ➔ Chen S, et al. Among authors: turkdogan d. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8. PMID: 36865150 Free PMC article. Updated. Preprint.
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC. Chundru VK, et al. Among authors: turkdogan d. Nat Genet. 2024 Oct;56(10):2046-2053. doi: 10.1038/s41588-024-01910-8. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313616 Free PMC article.
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Akinci G, Ozyilmaz B, Ozturk G, Komur M, Onel E, Ardicli D, Gerik-Celebi HB, Ozcelik A, Yilmaz S, Cetin ID, Gunay C, Tuncer GO, Aydin H, Gunes AS, Koken OY, Polat I, Degerliyurt A, Celik T, Cetinoglu YK, Karti O, Sahan S, Karakayali B, Isik E, Elmas M, Sahinoglu B, Bolat H, Karadeniz C, Ceylan AC, Yis U, Turkdogan D, Aksoy A, Temel SG, Topaloglu H. Akinci G, et al. Among authors: turkdogan d. Neuromuscul Disord. 2025 Aug;53:105423. doi: 10.1016/j.nmd.2025.105423. Epub 2025 Jun 25. Neuromuscul Disord. 2025. PMID: 40674812
Acute flaccid myelitis in Europe between 2016 and 2023: indicating the need for better registration.
Helfferich J, Calvo C, Alpeter E, Andrés C, Antón A, Aubart M, Bova SM, Cabrerizo M, von Eije K, Fabiola S, Felipe A, Iordanova R, Thomsen MK, Knudsen PK, van Loenen F, Lopez N, Mirand A, Molenkamp R, Midgley S, Neves R, Glomb LN, Øverbø J, Öztürk G, Palminha P, Viekilde Pfeiffer HC, Prochazka B, Ribeiro C, Rodesch M, Schuffenecker I, Shetty J, Siegert S, Solberg SL, Sulik A, Türkdoğan D, Ünver O, Verweij J, Vila J, Vuorinen T, Wickström R, Fischer TK, Harvala H, Benschop KSM. Helfferich J, et al. Among authors: turkdogan d. Euro Surveill. 2025 May;30(21):2400579. doi: 10.2807/1560-7917.ES.2025.30.21.2400579. Euro Surveill. 2025. PMID: 40444374 Free PMC article.
Pediatric case of Kelch-like protein 11 (KLHL11) encephalitis with long-term follow-up: pitfalls in diagnosis of pediatric autoimmune encephalitis.
Şanlı E, Pechlivanidou M, Akbeyaz H, Savaş M, Takış G, Tzartos J, Fındık OTP, Tüzün E, Türkdoğan D. Şanlı E, et al. Among authors: turkdogan d. Noro Psikiyatr Ars. 2025 Jun 11;62(2):97-99. doi: 10.29399/npa.28870. eCollection 2025. Noro Psikiyatr Ars. 2025. PMID: 40583956 Free PMC article. No abstract available.
When Is EEG Indicated in Attention-Deficit/Hyperactivity Disorder?
Zaimoğlu S, Türkdoğan D, Mazlum B, Bekiroğlu N, Tetik-Kabil A, Eyilikeder S. Zaimoğlu S, et al. Among authors: turkdogan d. J Child Neurol. 2015 Nov;30(13):1785-93. doi: 10.1177/0883073815580545. Epub 2015 Apr 20. J Child Neurol. 2015. PMID: 25895916
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
German HM, Zaki MS, Usmani MA, Karagoz I, Efthymiou S, Abdel-Hamid MS, Arabiyat HA, Ghaffar A, Shahzad M, van Bokhoven H, Ahmed ZM, Yaghini O, Hosseini N, Majidinezhad M, Alavi S, Bosma M, Broeks MH, Türkdoğan D, Suri M, Laura de Godoy L, Verhoeven-Duif NM, Riazuddin S, Gleeson JG, Alves C, Jans JJM, Riazuddin S, Houlden H, Maroofian R. German HM, et al. Among authors: turkdogan d. Genet Med. 2025 Dec;27(12):101587. doi: 10.1016/j.gim.2025.101587. Epub 2025 Sep 23. Genet Med. 2025. PMID: 41001736 Free article.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Manivannan SN, et al. Among authors: turkdogan d. Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. Brain. 2022. PMID: 34788397 Free PMC article.
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: turkdogan d. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659
69 results