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PreviewIssue DateTitleContributor(s)
Mar-2005Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive TrichothiodystrophyNakabayashi, Kazuhiko; Amann, Daniela; Ren, Yan; Saarialho-Kere, Ulpu; Avidan, Nili; Gentles, Simone; MacDonald, Jeffrey R.; Puffenberger, Erik G.; Christiano, Angela M.; Martínez Mir, Amalia; Salas-Alanis, J. C.; Rizzo, Renata; Vamos, Esther; Raams, Anja; Les, Clifford; Seboun, Eric; Jaspers, Nicolas G. J.; Beckmann, Jacques S.; Jackson, Charles E.; Scherer, Stephen W.
31-Aug-2010Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaBarragán, Isabel; Borrego, Salud; Pieras, Juan Ignacio; González del Pozo, María; Santoyo, Javier; Ayuso, Carmen; Baiget, Montserrat; Millán, José M.; Mena, Marcela; Abd El-Aziz, Mai M.; Audo, Isabelle; Zeitz, Christina; Littink, Karin W.; Dopazo, Joaquín; Bhattacharya, Shom Shanker; Antiñolo, Guillermo
5-Oct-2008EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaAbd El-Aziz, Mai M.; Barragán, Isabel; O'Driscoll, Ciara A.; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud; Mena, Marcela; Pieras, Juan Ignacio; El-Ashry, Mohamed F.; Abu Safieh, Leen; Shah, Amna; Cheetham, Michael E.; Carter, Nigel P.; Chakarova, Christina; Ponting, Chris P.; Bhattacharya, Shom Shanker; Antiñolo, Guillermo
18-Sep-2008Characterization of the p53 Response to Oncogene-Induced SenescenceRuiz, Lidia; Traskine, Magali; Ferrer, Irene; Castro, Estrella; Leal, Juan F. M.; Kaufman, Marcelline; Carnero, Amancio
11-Sep-2009Dysfunction of the unfolded protein response increases neurodegeneration in aged rat hippocampus following proteasome inhibitionGavilán, María P.; Pintado, Cristina; Gavilán, Elena; Jiménez, Sebastián; Ríos, Rosa M.; Vitorica, Javier; Castaño, Angélica; Ruano, Diego
30-Jun-2011A PTG Variant Contributes to a Milder Phenotype in Lafora DiseaseGuerrero, Rosa; Vernia, Santiago; Sanz, Raúl; Abreu-Rodríguez, Irene; Almaraz, Carmen; García-Hoyos, María; Michelucci, Roberto; Tassinari, Carlo Alberto; Riguzzi, Patrizia; Nobile, Carlo; Sanz, Pascual; Serratosa, José M.; Gómez-Garre, Pilar
8-Mar-2010Human TRIB2 is a repressor of FOXO that contributes to the malignant phenotype of melanoma cellsZanella, Fabian; Renner, Oliver; García, Beatriz; Callejas, S.; Dopazo, A.; Peregrina, Sandra; Carnero, Amancio; Link, Wolfgang
11-May-2010Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung diseaseSánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M.; Antiñolo, Guillermo; Borrego, Salud
2010Bypassing cellular senescence by genetic screening toolsVergel, Mar; Carnero, Amancio
9781118406465.pdf.jpg2014Cotton and Williams' practical gastrointestinal endoscopyAdam Haycock, Jonathan Cohen, Brian Saunders, Peter B. Cotton, Christopher B. Williams; videos supplied Stephen Preston