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

Year Number of Results
1993 3
1996 1
1997 2
1998 4
1999 4
2000 17
2001 16
2002 12
2003 9
2004 9
2005 11
2006 11
2007 17
2008 14
2009 14
2010 17
2011 16
2012 21
2013 26
2014 42
2015 43
2016 55
2017 29
2018 20
2019 33
2020 30
2021 35
2022 30
2023 45
2024 68
2025 35

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604 results

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Page 1
KBG syndrome.
Morel Swols D, Foster J 2nd, Tekin M. Morel Swols D, et al. Among authors: tekin m. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. Orphanet J Rare Dis. 2017. PMID: 29258554 Free PMC article. Review.
KBG Syndrome.
Morel Swols D, Tekin M. Morel Swols D, et al. Among authors: tekin m. 2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 29565525 Free Books & Documents. Review.
Reply.
Erşan I, Battal F, Aylanç H, Kara S, Arikan S, Tekin M, Gencer B, Tufan HA. Erşan I, et al. Among authors: tekin m. J AAPOS. 2016 Oct;20(5):469-470. doi: 10.1016/j.jaapos.2016.07.224. Epub 2016 Sep 21. J AAPOS. 2016. PMID: 27664847 No abstract available.
Gene therapy for hereditary deafness.
Smith C, Zafeer MF, Tekin M. Smith C, et al. Among authors: tekin m. Nat Med. 2024 Jul;30(7):1828-1829. doi: 10.1038/s41591-024-03004-8. Nat Med. 2024. PMID: 38839898 No abstract available.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: tekin m. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
Coffin-Siris syndrome and cancer susceptibility.
Borja NA, Schrier Vergano SA, Tekin M. Borja NA, et al. Among authors: tekin m. Genet Med Open. 2023 May 16;1(1):100818. doi: 10.1016/j.gimo.2023.100818. eCollection 2023. Genet Med Open. 2023. PMID: 39669229 Free PMC article.
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: tekin m. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. Tshering KC, et al. Genet Med. 2025 May;27(5):101392. doi: 10.1016/j.gim.2025.101392. Epub 2025 Feb 19. Genet Med. 2025. PMID: 39987489
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. Among authors: tekin m. J Med Genet. 2025 Jan 27;62(2):117-122. doi: 10.1136/jmg-2024-109908. J Med Genet. 2025. PMID: 39643435 Free PMC article.
604 results