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

Year Number of Results
1998 1
2000 2
2001 1
2002 6
2003 7
2004 6
2005 6
2006 5
2007 3
2008 2
2009 4
2010 4
2011 3
2012 5
2013 5
2014 8
2015 5
2016 5
2017 7
2018 4
2019 6
2021 3
2022 1
2023 1
2024 1
2025 1

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94 results

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Page 1
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ. Eisenberger T, et al. Among authors: preising mn. PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013. PLoS One. 2013. PMID: 24265693 Free PMC article.
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME. Igelman AD, et al. Among authors: preising m. Br J Ophthalmol. 2025 Jan 28;109(2):286-292. doi: 10.1136/bjo-2023-323747. Br J Ophthalmol. 2025. PMID: 39079892
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Preising MN, et al. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061
Artificial intelligence extension of the OSCAR-IB criteria.
Petzold A, Albrecht P, Balcer L, Bekkers E, Brandt AU, Calabresi PA, Deborah OG, Graves JS, Green A, Keane PA, Nij Bijvank JA, Sander JW, Paul F, Saidha S, Villoslada P, Wagner SK, Yeh EA; IMSVISUAL, ERN-EYE Consortium. Petzold A, et al. Ann Clin Transl Neurol. 2021 Jul;8(7):1528-1542. doi: 10.1002/acn3.51320. Epub 2021 May 19. Ann Clin Transl Neurol. 2021. PMID: 34008926 Free PMC article. Review.
Clinical utility gene card for: Oculocutaneous albinism.
Grønskov K, Brøndum-Nielsen K, Lorenz B, Preising MN. Grønskov K, et al. Among authors: preising mn. Eur J Hum Genet. 2014 Aug;22(8). doi: 10.1038/ejhg.2013.307. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518832 Free PMC article. No abstract available.
94 results