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

Year Number of Results
1989 2
1990 2
1991 8
1992 2
1993 10
1994 6
1995 5
1996 6
1997 11
1998 15
1999 18
2000 14
2001 22
2002 18
2003 15
2004 13
2005 19
2006 24
2007 13
2008 19
2009 21
2010 18
2011 14
2012 14
2013 17
2014 11
2015 22
2016 18
2017 20
2018 13
2019 16
2020 13
2021 14
2022 17
2023 13
2024 7

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441 results

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Page 1
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. Among authors: mayatepek e. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders.
Münch J, Prasuhn J, Laugwitz L, Fung CW, Chung BH, Bellusci M, Mayatepek E, Klee D, Distelmaier F. Münch J, et al. Among authors: mayatepek e. Antioxidants (Basel). 2023 Mar 14;12(3):718. doi: 10.3390/antiox12030718. Antioxidants (Basel). 2023. PMID: 36978966 Free PMC article. Review.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. Among authors: mayatepek e. Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013901 Free article.
IL-1RA Antibodies in Myocarditis after SARS-CoV-2 Vaccination.
Thurner L, Kessel C, Fadle N, Regitz E, Seidel F, Kindermann I, Lohse S, Kos I, Tschöpe C, Kheiroddin P, Kiblboeck D, Hoffmann MC, Bette B, Carbon G, Cetin O, Preuss KD, Christofyllakis K, Bittenbring JT, Pickardt T, Fischer Y, Thiele H, Baldus S, Stangl K, Steiner S, Gietzen F, Kerber S, Deneke T, Jellinghaus S, Linke A, Ibrahim K, Grabmaier U, Massberg S, Thilo C, Greulich S, Gawaz M, Mayatepek E, Meyer-Dobkowitz L, Kindermann M, Birk E, Birk M, Lainscak M, Foell D, Lepper PM, Bals R, Krawczyk M, Mevorach D, Hasin T, Keren A, Kabesch M, Abdul-Khaliq H, Smola S, Bewarder M, Thurner B, Böhm M, Pfeifer J, Klingel K. Thurner L, et al. Among authors: mayatepek e. N Engl J Med. 2022 Oct 20;387(16):1524-1527. doi: 10.1056/NEJMc2205667. Epub 2022 Sep 21. N Engl J Med. 2022. PMID: 36130012 Free PMC article. No abstract available.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: mayatepek e. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Aspects of Newborn Screening in Isovaleric Acidemia.
Schlune A, Riederer A, Mayatepek E, Ensenauer R. Schlune A, et al. Among authors: mayatepek e. Int J Neonatal Screen. 2018 Jan 29;4(1):7. doi: 10.3390/ijns4010007. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072933 Free PMC article. Review.
Update on mitochondrial fatty acid oxidation disorders.
Spiekerkoetter U, Mayatepek E. Spiekerkoetter U, et al. Among authors: mayatepek e. J Inherit Metab Dis. 2010 Oct;33(5):467-8. doi: 10.1007/s10545-010-9208-1. J Inherit Metab Dis. 2010. PMID: 20842433 No abstract available.
The many faces of paediatric mitochondrial disease on neuroimaging.
Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F. Baertling F, et al. Among authors: mayatepek e. Childs Nerv Syst. 2016 Nov;32(11):2077-2083. doi: 10.1007/s00381-016-3190-3. Epub 2016 Jul 23. Childs Nerv Syst. 2016. PMID: 27449766 Review.
Rare forms of congenital hyperinsulinism.
Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T. Marquard J, et al. Among authors: mayatepek e. Semin Pediatr Surg. 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006. Semin Pediatr Surg. 2011. PMID: 21186003 Review.
441 results