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Year Number of Results
2002 1
2007 1
2009 1
2010 4
2011 1
2012 3
2013 1
2014 1
2015 2
2017 3
2018 2
2019 3
2020 2
2021 10
2022 4
2023 4
2024 2

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41 results

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Page 1
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: ten brink jb. 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.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, van Genderen MM, Sieving PA, Leroy BP, Bergen AA, Boon CJF. Hahn LC, et al. Among authors: ten brink jb. Ophthalmology. 2022 Feb;129(2):191-202. doi: 10.1016/j.ophtha.2021.09.021. Epub 2021 Oct 6. Ophthalmology. 2022. PMID: 34624300 Free article.
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Talsma HE, Fiocco M, Florijn RJ, Ten Brink JB, Cremers FPM, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, Boon CJF. Nguyen XT, et al. Among authors: ten brink jb. Am J Ophthalmol. 2022 Feb;234:37-48. doi: 10.1016/j.ajo.2021.07.021. Epub 2021 Jul 25. Am J Ophthalmol. 2022. PMID: 34320374 Free article.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF. Hahn LC, et al. Among authors: ten brink jb. Ophthalmol Retina. 2022 Aug;6(8):711-722. doi: 10.1016/j.oret.2022.03.008. Epub 2022 Mar 18. Ophthalmol Retina. 2022. PMID: 35314386 Free article.
Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging.
Risseeuw S, Pilgrim MG, Bertazzo S, Brown CN, Csincsik L, Fearn S, Thompson RB, Bergen AA, Ten Brink JB, Kortvely E, Spiering W, Ossewaarde-van Norel J, van Leeuwen R, Lengyel I. Risseeuw S, et al. Among authors: ten brink jb. Ophthalmol Sci. 2023 Oct 24;4(2):100416. doi: 10.1016/j.xops.2023.100416. eCollection 2024 Mar-Apr. Ophthalmol Sci. 2023. PMID: 38170125 Free PMC article.
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Hensman J, Hahn LC, van Schooneveld MJ, Diederen RMH, Ten Brink JB, Florijn RJ, Bergen AA, Strubbe I, Heutinck P, van Genderen MM, van den Born LI, Thiadens AA, de Zaeytijd J, Leroy BP, Hoyng CB, Boon CJF. Hensman J, et al. Among authors: ten brink jb. Ophthalmol Retina. 2023 Dec 15:S2468-6530(23)00647-4. doi: 10.1016/j.oret.2023.12.003. Online ahead of print. Ophthalmol Retina. 2023. PMID: 38104928 Free article.
41 results