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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M, de Bruijn SE, Corradi Z, Rodenburg K, Lara-López A, Valverde-Megías A, Ávila-Fernández A, Fernandez-Caballero L, Del Pozo-Valero M, Corominas J, Gilissen C, Irigoyen C, Cremers FPM, Ayuso C, Ruiz-Ederra J, Roosing S. Rodríguez-Hidalgo M, et al. Among authors: ruiz ederra j. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
Subretinal Injection Techniques for Retinal Disease: A Review.
Irigoyen C, Amenabar Alonso A, Sanchez-Molina J, Rodríguez-Hidalgo M, Lara-López A, Ruiz-Ederra J. Irigoyen C, et al. Among authors: ruiz ederra j. J Clin Med. 2022 Aug 12;11(16):4717. doi: 10.3390/jcm11164717. J Clin Med. 2022. PMID: 36012955 Free PMC article. Review.
Current mutation discovery approaches in Retinitis Pigmentosa.
Anasagasti A, Irigoyen C, Barandika O, López de Munain A, Ruiz-Ederra J. Anasagasti A, et al. Vision Res. 2012 Dec 15;75:117-29. doi: 10.1016/j.visres.2012.09.012. Epub 2012 Sep 27. Vision Res. 2012. PMID: 23022136 Free article. Review.
31 results