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

Year Number of Results
1994 2
1996 1
1999 1
2001 1
2003 5
2004 4
2005 8
2006 8
2007 9
2008 13
2009 19
2010 11
2011 13
2012 13
2013 13
2014 11
2015 21
2016 22
2017 19
2018 15
2019 15
2020 26
2021 27
2022 25
2023 5
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259 results
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Page 1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: kara b. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: kara b. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Novarino G, et al. Among authors: kara b. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Unclear Issues Regarding COVID-19.
Yuksel A, Karadogan D, Gurkan CG, Akyil FT, Toreyin ZN, Marim F, Arikan H, Eyuboglu TS, Emiralioglu N, Serifoglu I, Develi E, Celik S, Sertcelik UO, Gursoy TR, Elversli MF, Oncel A, Er B, Firincioglulari A, Gunaydin FE, Ozakinci H, Ozcelik N, Esendagli D, Aydin A, Kose N, Ercelik M, Gulhan PY, Yildiz E, Irmak I, Kara BY, Gurz S, Karakas FG, Akgun M. Yuksel A, et al. Among authors: kara by. Eurasian J Med. 2020 Jun;52(2):191-196. doi: 10.5152/eurasianjmed.2020.20092. Eurasian J Med. 2020. PMID: 32612430 Free PMC article. Review.
Evaluation of Thiol/Disulfide Homeostasis in Bronchiectasis.
Ozyurt S, Ozcelik N, Kara BY, Arpa M, Metin Y, Erel O, Neselioglu S. Ozyurt S, et al. Among authors: kara by. Can Respir J. 2022 Jan 29;2022:8340450. doi: 10.1155/2022/8340450. eCollection 2022. Can Respir J. 2022. PMID: 35132344 Free PMC article.
Buried Bumper Syndrome: Early or Late?
Ölmez Ş, Sarıtaş B, Yalçın MS, Öztürk NA, Taş A, Kara B. Ölmez Ş, et al. Among authors: kara b. Gastroenterol Nurs. 2021 Sep-Oct 01;44(5):328-333. doi: 10.1097/SGA.0000000000000559. Gastroenterol Nurs. 2021. PMID: 34319936
ACUTE BURIED BUMPER SYNDROME: A RARE ENTITY.
Olmez S, Sarıtaş B, Nar H, Tas A, Kara B. Olmez S, et al. Among authors: kara b. Gastroenterol Nurs. 2019 Jul/Aug;42(4):388-390. doi: 10.1097/SGA.0000000000000455. Gastroenterol Nurs. 2019. PMID: 31365427 Review. No abstract available.
What We Learned about COVID-19 So Far? Notes from Underground.
Akyıl FT, Karadoğan D, Gürkan CG, Yüksel A, Arıkan H, Eyüboğlu TŞ, Emiralioğlu N, Gürsoy TR, Şerifoğlu İ, Töreyin ZN, Marim F, Kara BY, Özakıncı H, Develi E, Çakmakçı S, Küsbeci TÇ, Karcıoğlu O, Gülhan PY, Erçelik M, Er B, Ataoğlu Ö, Polat D, Kaya İ, Önyılmaz TA, Aydın A, Kızılırmak D, Er AB, Kılınç M, Günaydın FE, Gürz S, Karaoğlanoğlu S, Çelik S, Esendağlı D, Toptay H, Sertçelik ÜÖ, Akgün M. Akyıl FT, et al. Among authors: kara by. Turk Thorac J. 2020 May;21(3):185-192. doi: 10.5152/TurkThoracJ.2020.20052. Turk Thorac J. 2020. PMID: 32584236 Free PMC article. Review.
259 results