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

Year Number of Results
2007 3
2008 5
2009 5
2010 5
2011 8
2012 6
2013 8
2014 15
2015 18
2016 8
2017 12
2018 8
2019 4
2020 3
2021 4
2022 2
2023 5
2024 1

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102 results

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Page 1
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: bolz hj. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 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: bolz hj. 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 MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. Among authors: bolz hj. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P. Birtel J, et al. Among authors: bolz hj. Ophthalmol Retina. 2020 May;4(5):523-529. doi: 10.1016/j.oret.2019.12.008. Epub 2020 Mar 5. Ophthalmol Retina. 2020. PMID: 32147488
[Genetics of Usher syndrome].
Bolz HJ. Bolz HJ. Ophthalmologe. 2009 Jun;106(6):496-504. doi: 10.1007/s00347-008-1887-8. Ophthalmologe. 2009. PMID: 19495774 Review. German.
[Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
Papadopoulou Laiou C, Preising MN, Bolz HJ, Lorenz B. Papadopoulou Laiou C, et al. Among authors: bolz hj. 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.
102 results