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Year Number of Results
2004 1
2007 1
2009 1
2013 1
2014 3
2015 9
2016 11
2017 10
2018 7
2019 8
2020 11
2021 7
2022 3
2023 7
2024 3

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71 results

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Page 1
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I, Tuysuz B, Ozbek MN, Tanrikulu S, Celik Guler M, Karhan AN, Denkboy Ongen Y, Gunes N, Soyaltin UE, Altay C, Nur B, Ozalkak S, Akgun Dogan O, Dursun F, Pekkolay Z, Eren MA, Usta Y, Ozisik S, Ozgen Saydam B, Adiyaman SC, Unal MC, Gungor Semiz G, Turan I, Eren E, Kayserili H, Jeru I, Vigouroux C, Atik T, Onay H, Ozen S, Arioglu Oral E, Akinci B. Yildirim Simsir I, et al. Among authors: atik t. Diabetes Obes Metab. 2023 Jul;25(7):1950-1963. doi: 10.1111/dom.15061. Epub 2023 Apr 11. Diabetes Obes Metab. 2023. PMID: 36946378
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M, Duman D, Hendricks LCP, Guo S, Mutlu A, Kalcioglu MT, Seyhan S, Carranza C, Bonyadi M, Mahdieh N, Yildirim-Baylan M, Figueroa-Ildefonso E, Alper O, Atik T, Ayral A, Bozan N, Balta B, Rivas C, Manzoli GN, Huesca-Hernandez F, Kuchay RAH, Durgut M, Bademci G, Tekin M. Ramzan M, et al. Among authors: atik t. J Hum Genet. 2023 Oct;68(10):657-669. doi: 10.1038/s10038-023-01159-9. Epub 2023 May 22. J Hum Genet. 2023. PMID: 37217689
LSM1 is the new candidate gene for neurodevelopmental disorder.
Kok Kilic G, Isik E, Alpay O, Atik T, Aykut A, Durmaz A, Cogulu O, Ozkinay F. Kok Kilic G, et al. Among authors: atik t. Eur J Med Genet. 2022 Nov;65(11):104610. doi: 10.1016/j.ejmg.2022.104610. Epub 2022 Sep 12. Eur J Med Genet. 2022. PMID: 36100156
Diffuse hypomyelination is not obligate for POLR3-related disorders.
La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. La Piana R, et al. Among authors: atik t. Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029625 Free PMC article.
A rare cause of syndromic short stature: 3M syndrome in three families.
Isik E, Arican D, Atik T, Ooi JE, Darcan S, Ozen S, Simsek Kiper PO, Utine E, Cogulu O, Ozkinay F. Isik E, et al. Among authors: atik t. Am J Med Genet A. 2021 Feb;185(2):461-468. doi: 10.1002/ajmg.a.61989. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258289
A rare sex chromosome aneuploidy: 48,XXYY syndrome.
Atik T, Çoğulu Ö, Özkınay F. Atik T, et al. Turk Pediatri Ars. 2016 Jun 1;51(2):106-9. doi: 10.5152/TurkPediatriArs.2016.1551. eCollection 2016 Jun. Turk Pediatri Ars. 2016. PMID: 27489468 Free PMC article.
71 results