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

Year Number of Results
2000 2
2007 7
2008 8
2009 13
2010 11
2011 21
2012 19
2013 13
2014 27
2015 25
2016 13
2017 7
2018 13
2019 17
2020 7
2021 10
2022 26
2023 15
2024 7

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225 results

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Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: uysal b. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
Transducer Technologies for Biosensors and Their Wearable Applications.
Polat EO, Cetin MM, Tabak AF, Bilget Güven E, Uysal BÖ, Arsan T, Kabbani A, Hamed H, Gül SB. Polat EO, et al. Among authors: uysal bo. Biosensors (Basel). 2022 Jun 2;12(6):385. doi: 10.3390/bios12060385. Biosensors (Basel). 2022. PMID: 35735533 Free PMC article. Review.
Urinary HSP70 improves diagnostic accuracy for urinary tract infection in children: UTILISE study.
Yilmaz A, Afonso AC, Akil I, Aksu B, Alpay H, Atmis B, Aydog O, Bayazıt AK, Bayram MT, Bilge I, Bulut IK, Buyukkaragoz B, Comak E, Demir BK, Dincel N, Donmez O, Durmus MA, Dursun H, Dusunsel R, Duzova A, Ertan P, Gedikbasi A, Goknar N, Guven S, Hacihamdioglu D, Jankauskiene A, Kalyoncu M, Kavukcu S, Kenan BU, Kucuk N, Kural B, Litwin M, Montini G, Morello W, Nayir A, Obrycki L, Omer B, Ozdemir EM, Ozkayin N, Paripovic D, Pehlivanoglu C, Saygili S, Schaefer S, Sonmez F, Tabel Y, Tas N, Tasdemir M, Teixeira A, Tekcan D, Tulpar S, Turkkan ON, Uysal B, Uysalol M, Vaiciuniene D, Yavuz S, Yel S, Yildirim T, Yildirim ZY, Yildiz N, Yuksel S, Yurtseven E, Schaefer F, Topaloglu R. Yilmaz A, et al. Among authors: uysal b. Pediatr Nephrol. 2023 Mar;38(3):791-799. doi: 10.1007/s00467-022-05664-5. Epub 2022 Jul 18. Pediatr Nephrol. 2023. PMID: 35849222
Concise review of radiosurgery for contemporary management of pilocytic astrocytomas in children and adults.
Sager O, Dincoglan F, Demiral S, Uysal B, Gamsiz H, Gumustepe E, Ozcan F, Colak O, Gursoy AT, Dursun CU, Tugcu AO, Dogru GD, Arslan R, Elcim Y, Gundem E, Dirican B, Beyzadeoglu M. Sager O, et al. Among authors: uysal b. World J Exp Med. 2022 May 20;12(3):36-43. doi: 10.5493/wjem.v12.i3.36. eCollection 2022 May 20. World J Exp Med. 2022. PMID: 35765513 Free PMC article. Review.
225 results