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The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Vázquez-Domínguez I, Duijkers L, Fadaie Z, Alaerds ECW, Post MA, van Oosten EM, O'Gorman L, Kwint M, Koolen L, Hoogendoorn ADM, Kroes HY, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A. Vázquez-Domínguez I, et al. Among authors: koolen l. Cells. 2022 Nov 17;11(22):3640. doi: 10.3390/cells11223640. Cells. 2022. PMID: 36429068 Free PMC article.
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: koolen l. Stem Cell Res. 2022 Jul;62:102797. doi: 10.1016/j.scr.2022.102797. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526386 Free article.
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
de Jong S, Koolen L, Vázquez-Domínguez I, de Breuk A, Albert S, Hoyng CB, Katti S, den Hollander AI, Garanto A. de Jong S, et al. Among authors: koolen l. Stem Cell Res. 2022 Jul;62:102796. doi: 10.1016/j.scr.2022.102796. Epub 2022 Apr 30. Stem Cell Res. 2022. PMID: 35526389 Free article.
Oncological Safety and Potential Cost Savings of Routine vs Selective Histopathological Examination After Appendectomy: Results of the Multicenter, Prospective, Cross-Sectional FANCY Study.
Bastiaenen VP, de Jonge J, Corten BJGA, de Savornin Lohman EAJ, Kraima AC, Swank HA, van Vliet JLP, van Acker GJD, van Geloven AAW, In 't Hof KH, Koens L, de Reuver PR, van Rossem CC, Slooter GD, Tanis PJ, Terpstra V, Dijkgraaf MGW, Bemelman WA; Dutch Snapshot Research Group. Bastiaenen VP, et al. Ann Surg. 2023 Mar 1;277(3):e578-e584. doi: 10.1097/SLA.0000000000005228. Epub 2021 Oct 5. Ann Surg. 2023. PMID: 35072428 Free PMC article.
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