Browsing by Author Gonzàlez-Duarte, Roser

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Showing results 21 to 24 of 24 < previous 
Issue DateTitleAuthor(s)
22-Dec-2016Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencingCastro Miró, Marta de; Tonda, Raul; Escudero Ferruz, Paula; Andrés, Rosa; Mayor Lorenzo, Andres; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez Ezcurra, Juan José; Farrando, Jorge; Pérez Santonja, Juan J.; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser
2002ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteinsTusón Segarra, Miquel; Marfany i Nadal, Gemma; Herrero, Enric; Balcells Comas, Susana; Gonzàlez-Duarte, Roser; Hjelmqvist, Lars
12-Apr-2004Paper de les mutacions del mtDNA en la modulació del sistema antioxidant. Estudi en un model de cíbrids transmitocondrialsVives Bauzà, Cristòfol
7-Jan-2013Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated PhenotypePerrault, Isabelle; Estrada-Cuzcano, Alejandro; Lopez, Irma; Kohl, Susanne; Li, Shiqiang; Testa, Francesco; Zekveld, Renate; Pomares, Esther; Aboussair, Nisrine; Banfi, Sandro; Delphin, Nathalie; Den Hollander, Anneke I.; Edelson, Catherine; Florijn, Ralph; Jean-Pierre, Marc; Leowski, Corinne; Megarbane, Andre; Munnich A.; Ren, Huanan; Bergen, Arthur; Chen, Rui; Cremers, Frans P. M.; Gonzàlez-Duarte, Roser; Koenekoop, Robert K.; Simonelli, Francesca; Wissinger, Bernd; Zhang, Qingjiong; Kaplan, Josseline; Rozet, Jean-Michel