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Anales De Pediatria|June 6, 2020
[Participant-funded clinical trials on rare diseases]Rafael Dal-Ré, Francesc Palau, Encarna Guillén-Navarro, et al.Molecular Vision|August 10, 2012
Molecular approach in the study of Alström syndrome: analysis of ten Spanish familiesTeresa Piñeiro-Gallego, Marta Cortón, Carmen Ayuso, et al.Journal of the Neurological Sciences|September 11, 2002
Movement disorders in hereditary ataxiasPedro J Garcia Ruiz, David Mayo, Jaime Hernandez, et al.Seminars in Liver Disease|November 5, 2014
Systemic therapy for hepatocellular carcinoma: the issue of treatment stage migration and registration of progression using the BCLC-refined RECISTMaria Reig, Anna Darnell, Alejandro Forner, et al.Investigative Ophthalmology & Visual Science|November 18, 2008
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutationsDiana Valverde, Ines Pereiro, Elena Vallespín, et al.La Radiologia Medica|July 21, 2021
Diagnostic value of morphological enhancement patterns in the hepatobiliary phase of gadoxetic acid-enhanced MRI to distinguish focal nodular hyperplasia from hepatocellular adenomaCarlos Bilreiro, Juan Carlos Soler, Juan R Ayuso, et al.Abdominal Imaging|September 1, 2011
MRI of Crohn's disease: from imaging to pathologyJordi Rimola, Sonia Rodríguez, Maria Luisa Cabanas, et al.American Journal of Human Genetics|May 10, 2011
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosaGoranka Tanackovic, Adriana Ransijn, Carmen Ayuso, et al.Journal of Medical Genetics|June 18, 2015
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome familiesSheila Castro-Sánchez, María Álvarez-Satta, Marta Cortón, et al.Ophthalmic Research|November 28, 2023
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 GenotypesJi Hoon Han, Francesca Cancellieri, Irene Perea-Romero, et al.Pageof 33