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Stem Cell Research|October 17, 2017
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545ArgFrancisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, et al.
Frontiers in Genetics|October 29, 2024
Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locusCristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|June 5, 2003
Changes in portal vein flow after adult living-donor liver transplantation: does it influence postoperative liver function?Juan C García-Valdecasas, José Fuster, Ramon Charco, et al.
Obesity Surgery|June 8, 2006
Intra-abdominal fat adiponectin receptors expression and cardiovascular metabolic risk factors in obesity and diabetesRosa Morínigo, Melina Musri, Josep Vidal, et al.
Frontiers in Genetics|July 15, 2026
Case report: Characterization of a patient with novel biallelic variants in GTF3C3 and comprehensive review of previously reported casesLucía López-López, Beatriz González Giráldez, Yolanda Benítez, et al.
Experimental Eye Research|March 20, 2021
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal DiseaseFahimeh Beigi, Marta Del Pozo-Valero, Inmaculada Martin-Merida, et al.
Inflammatory Bowel Diseases|July 12, 2011
Magnetic resonance imaging for evaluation of Crohn's disease: validation of parameters of severity and quantitative index of activityJordi Rimola, Ingrid Ordás, Sonia Rodriguez, et al.
Molecular Vision|July 27, 2007
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish populationMaría José Gamundi, Imma Hernan, Marta Muntanyola, 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.
Investigative Ophthalmology & Visual Science|June 12, 2010
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndromeElena Aller, Teresa Jaijo, Gema García-García, et al.
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