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

Year Number of Results
2000 1
2003 1
2005 2
2006 1
2007 2
2008 2
2009 4
2010 6
2011 5
2012 4
2013 2
2014 2
2015 8
2016 6
2017 8
2018 7
2019 8
2020 12
2021 13
2022 1
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82 results
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Page 1
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kuehlewein L, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B. Fischer MD, et al. Among authors: weisschuh n. JAMA Ophthalmol. 2020 Jun 1;138(6):643-651. doi: 10.1001/jamaophthalmol.2020.1032. JAMA Ophthalmol. 2020. PMID: 32352493 Free PMC article. Clinical Trial.
Splicing mutations in inherited retinal diseases.
Weisschuh N, Buena-Atienza E, Wissinger B. Weisschuh N, et al. Prog Retin Eye Res. 2021 Jan;80:100874. doi: 10.1016/j.preteyeres.2020.100874. Epub 2020 Jun 15. Prog Retin Eye Res. 2021. PMID: 32553897 Review.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: weisschuh n. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Kuehlewein L, et al. Among authors: weisschuh n. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. Int J Mol Sci. 2021. PMID: 33673512 Free PMC article.
CDHR1 mutations in retinal dystrophies.
Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Among authors: weisschuh n. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.
Progress in the genetics of glaucoma.
Weisschuh N, Schiefer U. Weisschuh N, et al. Dev Ophthalmol. 2003;37:83-93. doi: 10.1159/000072040. Dev Ophthalmol. 2003. PMID: 12876831 Review.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.
Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z. Gong B, et al. Among authors: weisschuh n. Genet Med. 2019 Oct;21(10):2345-2354. doi: 10.1038/s41436-019-0507-0. Epub 2019 Apr 19. Genet Med. 2019. PMID: 31000793
82 results