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

Year Number of Results
2004 2
2005 1
2007 1
2009 1
2010 1
2011 2
2012 4
2013 5
2014 6
2015 8
2016 4
2017 3
2018 4
2019 3
2020 4
2021 9
2022 3
2023 4
2024 3

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61 results

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Page 1
A transposase-derived gene required for human brain development.
Zapater LJ, Rodriguez-Fos E, Planas-Felix M, Lewis S, Cameron D, Demarest P, Nabila A, Zhao J, Bergin P, Reed C, Yamada M, Pagnozzi A, Nava C, Bourel-Ponchel E, Neilson DE, Dursun A, Özgül RK, Akar HT, Socci ND, Hayes M, Rabadan R, Torrents D, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: ozgul rk. bioRxiv [Preprint]. 2023 May 23:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2023. PMID: 37163102 Free PMC article. Preprint.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: ozgul rk. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Presentation of 14 alkaptonuria patients from Turkey.
Akbaba AI, Ozgül RK, Dursun A. Akbaba AI, et al. J Pediatr Endocrinol Metab. 2020 Feb 25;33(2):289-294. doi: 10.1515/jpem-2019-0163. J Pediatr Endocrinol Metab. 2020. PMID: 31927521
Immunodeficiency in a Child with Alström Syndrome.
Ozdemir TR, Karaca NE, Marshall JD, Kutukculer N, Aksu G, Ozgul RK, Ozanturk A, Isik E, Akgun B, Ozdemir HH, Darcan S, Ozkinay F, Cogulu O. Ozdemir TR, et al. Indian J Pediatr. 2018 Oct;85(10):924-926. doi: 10.1007/s12098-018-2740-y. Epub 2018 Aug 28. Indian J Pediatr. 2018. PMID: 30155784 No abstract available.
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Ozantürk A, Marshall JD, Collin GB, Düzenli S, Marshall RP, Candan Ş, Tos T, Esen İ, Taşkesen M, Çayır A, Öztürk Ş, Üstün İ, Ataman E, Karaca E, Özdemir TR, Erol İ, Eroğlu FK, Torun D, Parıltay E, Yılmaz-Güleç E, Karaca E, Atabek ME, Elçioğlu N, Satman İ, Möller C, Muller J, Naggert JK, Özgül RK. Ozantürk A, et al. J Hum Genet. 2015 Jan;60(1):1-9. doi: 10.1038/jhg.2014.85. Epub 2014 Oct 9. J Hum Genet. 2015. PMID: 25296579 Free PMC article. Review.
61 results