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

Year Number of Results
1998 1
1999 1
2000 1
2001 2
2002 2
2004 2
2007 1
2008 2
2009 2
2011 3
2012 5
2013 4
2014 2
2015 1
2016 2
2017 3
2018 2
2019 3
2020 1
2021 1
2023 2
2024 1

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42 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: friedburg c. 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. Among authors: friedburg c. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T. Catarino CB, et al. Among authors: friedburg c. J Neuroophthalmol. 2020 Dec;40(4):558-565. doi: 10.1097/WNO.0000000000001023. J Neuroophthalmol. 2020. PMID: 32991388 Free PMC article. Clinical Trial.
Genotyping microarray for CSNB-associated genes.
Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Zeitz C, et al. Among authors: friedburg c. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. doi: 10.1167/iovs.09-3548. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578023 Free article.
[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].
Preising MN, Schneider U, Friedburg C, Gruber H, Lindner S, Lorenz B. Preising MN, et al. Among authors: friedburg c. Klin Monbl Augenheilkd. 2019 Mar;236(3):244-252. doi: 10.1055/a-0842-3250. Epub 2019 Mar 21. Klin Monbl Augenheilkd. 2019. PMID: 30897646 German.
[10 years of screening for retinopathy of prematurity (2009-2019) : Results analysis of two German level-1 neonatal intensive care units (NICUs) with university on-site screening and a telemedical approach in the non-university NICU].
Busik V, Lorenz B, Mais C, Jäger M, Friedburg C, Andrassi-Darida M, Ehrhardt H, Hubert M. Busik V, et al. Among authors: friedburg c. Ophthalmologie. 2023 Sep;120(9):920-931. doi: 10.1007/s00347-023-01847-z. Epub 2023 Apr 21. Ophthalmologie. 2023. PMID: 37083751 German.
42 results