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

Year Number of Results
2002 1
2003 1
2004 3
2005 3
2006 4
2008 3
2009 2
2010 1
2011 1
2012 1
2013 2
2014 3
2015 1
2016 4
2017 4
2018 2
2019 1
2020 4
2021 1
2022 1
2023 3
2024 1

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39 results

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Page 1
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Müller-Koch Y, Keller G, Schackert HK, Krüger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Rüschoff J, Propping P. Mangold E, et al. Among authors: kunstmann e. Int J Cancer. 2005 Sep 20;116(5):692-702. doi: 10.1002/ijc.20863. Int J Cancer. 2005. PMID: 15849733 Free article.
[Rare cause of occlusive retinal vasculopathy].
Nattmann A, Kunstmann E, Gernert M, Schwabe D. Nattmann A, et al. Among authors: kunstmann e. Ophthalmologie. 2024 Feb;121(2):141-145. doi: 10.1007/s00347-023-01929-y. Epub 2023 Oct 10. Ophthalmologie. 2024. PMID: 37816831 German. No abstract available.
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H. Lorenz D, et al. Among authors: kunstmann e. BMC Neurol. 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7. BMC Neurol. 2022. PMID: 35291973 Free PMC article.
Low-energy trauma-induced intercondylar femoral fracture.
Aeby M, Wyss T, Mentrup B, Kunstmann E, Jakob F, Aeberli D. Aeby M, et al. Among authors: kunstmann e. Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):151-153. doi: 10.11138/ccmbm/2016.13.2.151. Epub 2016 Oct 5. Clin Cases Miner Bone Metab. 2016. PMID: 27920814 Free PMC article.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: kunstmann e. Eur J Hum Genet. 2019 Jul;27(7):1061-1071. doi: 10.1038/s41431-019-0362-0. Epub 2019 Feb 26. Eur J Hum Genet. 2019. PMID: 30809043 Free PMC article. Clinical Trial.
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.
Hasler D, Meduri R, Bąk M, Lehmann G, Heizinger L, Wang X, Li ZT, Sement FM, Bruckmann A, Dock-Bregeon AC, Merkl R, Kalb R, Grauer E, Kunstmann E, Zavolan M, Liu MF, Fischer U, Meister G. Hasler D, et al. Among authors: kunstmann e. Mol Cell. 2020 Mar 5;77(5):1014-1031.e13. doi: 10.1016/j.molcel.2020.01.001. Epub 2020 Feb 3. Mol Cell. 2020. PMID: 32017898 Free article.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: kunstmann e. Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29758562 Free PMC article.
39 results