Showing results (1-10 of 47) with videos related to

Sort By:
Pageof 5
Molecular Vision|August 19, 2006
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated alleleDiana Valverde, Rosa Riveiro-Alvarez, Sara Bernal, et al.
Molecular Vision|April 15, 2009
ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysisSusana Maia-Lopes, Jana Aguirre-Lamban, Miguel Castelo-Branco, et al.
Clinical & Experimental Ophthalmology|July 24, 2010
Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinismMonica Martinez-Garcia, Rosa Riveiro-Alvarez, Cristina Villaverde-Montero, et al.
Plos One|August 14, 2013
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosisMarta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, et al.
Investigative Ophthalmology & Visual Science|February 28, 2007
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patientsDiana Valverde, Rosa Riveiro-Alvarez, Jana Aguirre-Lamban, et al.
BMC Medical Genetics|January 8, 2017
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case reportFiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, et al.
Investigative Ophthalmology & Visual Science|December 5, 2009
Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 geneJana Aguirre-Lamban, Rosa Riveiro-Alvarez, Maria Garcia-Hoyos, et al.
Molecular Vision|December 15, 2007
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosaElena Vallespin, Miguel-Angel Lopez-Martinez, Diego Cantalapiedra, et al.
Investigative Ophthalmology & Visual Science|June 3, 2008
CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosaAlmudena Avila-Fernandez, Rosa Riveiro-Alvarez, Elena Vallespin, et al.
Scientific Reports|September 6, 2017
Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effectsClara I Gomez-Sanchez, Juan J Carballo, Rosa Riveiro-Alvarez, et al.
Pageof 5