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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: berger w. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
RAPID ONSET HYDROXYCHLOROQUINE TOXICITY.
Jeltsch BM, Sarraf D, Madjdpour D, Hanson JVM, Pfiffner FK, Koller S, Berger W, Barthelmes D, Al-Sheikh M. Jeltsch BM, et al. Among authors: berger w. Retin Cases Brief Rep. 2024 May 1;18(3):351-354. doi: 10.1097/ICB.0000000000001393. Epub 2023 Dec 8. Retin Cases Brief Rep. 2024. PMID: 36857194
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: berger w. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Intra-familial phenotype variability in patients with Jalili syndrome.
Gerth-Kahlert C, Seebauer B, Dold S, Hanson JV, Wildberger H, Spörri A, van Waes H, Berger W. Gerth-Kahlert C, et al. Among authors: berger w. Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23. Eye (Lond). 2015. PMID: 25613845 Free PMC article. No abstract available.
Multimodal imaging of autosomal dominant drusen.
Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S. Zweifel SA, et al. Among authors: berger w. Klin Monbl Augenheilkd. 2012 Apr;229(4):399-402. doi: 10.1055/s-0031-1299404. Epub 2012 Apr 11. Klin Monbl Augenheilkd. 2012. PMID: 22496012
Preclinical models for bladder cancer therapy research.
Ertl I, Shariat SF, Berger W, Englinger B. Ertl I, et al. Among authors: berger w. Curr Opin Urol. 2024 Apr 17. doi: 10.1097/MOU.0000000000001182. Online ahead of print. Curr Opin Urol. 2024. PMID: 38630912
Checkpoint Inhibitor Monotherapy in Potentially Trial-Eligible or Trial-Ineligible Patients With Metastatic NSCLC in the German Prospective CRISP Registry Real-World Cohort (AIO-TRK-0315).
Griesinger F, Sebastian M, Brueckl WM, Hummel HD, Jaeschke B, Kern J, Wesseler C, Jänicke M, Fleitz A, Zacharias S, Hipper A, Groth A, Weichert W, Dörfel S, Petersen V, Schröder J, Wilke J, Eberhardt WEE, Thomas M; CRISP Registry Group. Griesinger F, et al. JTO Clin Res Rep. 2023 Dec 25;5(4):100626. doi: 10.1016/j.jtocrr.2023.100626. eCollection 2024 Apr. JTO Clin Res Rep. 2023. PMID: 38586301 Free PMC article.
1,144 results