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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 5
2021 2
2022 1
2023 0
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90 results
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Page 1
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Chung DC, et al. Among authors: preising m. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28. Am J Ophthalmol. 2019. PMID: 30268864 Free PMC article.
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.
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
[Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
Papadopoulou Laiou C, Preising MN, Bolz HJ, Lorenz B. Papadopoulou Laiou C, et al. Among authors: preising mn. Klin Monbl Augenheilkd. 2017 Mar;234(3):289-302. doi: 10.1055/s-0043-103961. Epub 2017 Mar 29. Klin Monbl Augenheilkd. 2017. PMID: 28355663 Review. German.
90 results