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104 results

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Five years' experience of the clinical exome sequencing in a Spanish single center.
Arteche-López A, Ávila-Fernández A, Riveiro Álvarez R, Almoguera B, Bustamante Aragonés A, Martin-Merida I, López Martínez MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C. Arteche-López A, et al. Among authors: riveiro alvarez r. Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6. Sci Rep. 2022. PMID: 36357507 Free PMC article.
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Vallespin E, et al. Among authors: riveiro alvarez r. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61. doi: 10.1167/iovs.07-0007. Invest Ophthalmol Vis Sci. 2007. PMID: 18055816
Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.
Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2008 Oct;124(3):307-8. Hum Genet. 2008. PMID: 18846643 No abstract available.
Gene symbol: NDP. Disease: Norrie disease.
Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2008 Oct;124(3):308. Hum Genet. 2008. PMID: 18846645 No abstract available.
104 results