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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 51

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620 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.
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
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.
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.
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
Bereshneh AH, Andrews JC, Eberl DF, Bademci G, Borja NA, Bivona S; Undiagnosed Diseases Network; Baylor College of Medicine Center for Precision Medicine Models; Chung WK, Yamamoto S, Wangler MF, McKee S, Tekin M, Bellen HJ, Kanca O. Bereshneh AH, et al. Among authors: tekin m. Am J Hum Genet. 2025 Apr 3;112(4):846-862. doi: 10.1016/j.ajhg.2025.02.019. Epub 2025 Mar 14. Am J Hum Genet. 2025. PMID: 40088891 Free PMC article.
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.
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: tekin m. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378
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.
620 results