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Results 1-10 of 18 (Search time: 0.039 seconds).
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Issue DateTitleAuthor(s)
30-Jun-2014Biological interactions between multiple genetic mutationsMàdico Ferrer, Adrià
30-Jul-2004Anàlisi de mutacions i expressió d'al·lels mutats a la malaltia de Gaucher i la síndrome de Sanfilippo Tipus AMontfort Roca, Magda
23-Jan-2015Genetic and molecular analysis or Sanfilippo C syndrome. Generation of a neuronal model using human induced pluripotent stem (iPS) cells and therapeutic strategiesCanals Montferrer, Isaac
Apr-2016Mutanome and expression of immune response genes in microsatellite stable colon cancerSanz Pamplona, Rebeca; Gil Hoyos, Raúl; López Dóriga Guerra, Adriana; Alonso Aguado, Maria Henar; Aussó, Susanna; Garcia i Molleví, David; Santos, Cristina; Sanjuan, Xavier; Salazar Soler, Ramón; Alemany Bonastre, Ramon; Moreno Aguado, Víctor
4-Mar-2016Correction of point mutations at the endogenous locus of the mammalian dihydrofolate reductase gene using polypurine reverse hoogsteen hairpinsSolé Ferré, Anna
24-Oct-2018A Pan-cancer analysis reveals high-frequency genetic alterations in mediators of signaling by the tgf-β superfamilyKorkut, Anil; Zaidi, Sobia; Kanchi, Rupa S.; Rao, Shuyun; Gough, Nancy R.; Schultz, Andre; Li, Xubin; Lorenzi, Philip L.; Berger, Ashton C.; Robertson, Gordon; Kwong, Lawrence N.; Datto, Mike; Roszik, Jason; Ling, Shiyun; Ravikumar, Visweswaran; Manyam, Ganiraju; Rao, Arvind; Shelley, Simon; Liu, Yuexin; Ju, Zhenlin; Hansel, Donna; Velasco, Guillermo de; Pennathur, Arjun; Andersen, Jesper B.; O'Rourke, Colm J.; Ohshiro, Kazufumi; Jogunoori, Wilma; Nguyen, Bao-Ngoc; Li, Shulin; Osmanbeyoglu, Hatice U.; Ajani, Jaffer A.; Mani, Sendurai A.; Houseman, Andres; Wiznerowicz, Maciej; Chen, Jian; Gu, Shoujun; Ma, Wencai; Zhang, Jiexin; Tong, Pan; Cancer Genome Atlas Research Network
1-Mar-2004Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiencyCorral, Javier; González-Conejero, Rocio; Pujol-Moix, Nuria; Domènech, Pere; Vicente, Vicente
20-Oct-2009The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersSinilnikova, Olga M.; Antoniou, Antonis C.; Simard, Jacques; Healey, Sue; Léoné, Mélanie; Sinnett, Daniel; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xieng; KConFab Investigators; Greene, Mark H.; Loud, Jennifer T.; Lejbkowicz, Flavio; Rennert, Gad; Dishon, Sara; Andrulis, Irene L.; OCGN; Domchek, Susan M.; Nathanson, Katherine L.; Manoukian, Siranoush; Radice, Paolo; Konstantopoulou, Irene; Blanco Guillermo, Ignacio; Laborde, Adriana Lasa; Durán, Mercedes; Osorio, Ana; Benitez, Javier; Hamann, Ute; Hogervorst, Frans B. L.; Van Os, Theo A.; Gille, Hans J.P.; HEBON Investigators; Peock, Susan; Cook, Margaret; Luccarini, Craig; Evans, D. Gareth; Lalloo, Fiona; Eeles, Rosalind A.; Pichert, Gabriella; Davidson, Rosemarie
21-Aug-2012Mutations in escherichia coli aceE and ribB genes allow survival of strains defective in the first step of the isoprenoid biosynthesis pathwayPerez Gil, Jordi; Uros, Eva Maria; Sauret-Güeto, Susanna; Lois Rojas, Luisa María; Kirby, James; Nishimoto, Minobu; Baidoo, Edward E.K.; Keasling, Jay D.; Boronat i Margosa, Albert; Rodríguez Concepción, Manuel
3-Mar-2011Somatic coding mutations in human induced pluripotent stem cellsGore, Athurva; Li, Zhe; Fung, Ho-Lim; Young, Jessica; Agarwal, Suneet; Antosiewicz-Bourget, Jessica; Canto, Isabel; Giorgetti, Alessandra; Israel, Mason A.; Kiskinis, Evangelos; Lee, Je-Hyuk.; Loh, Yuin-Han; Manos, Philip D.; Montserrat, Núria; Panopoulos, Athanasia D.; Ruiz, Sergio; Wilbert, Melissa L.; Yu, Junying; Kirkness, Ewen F.; Izpisúa Belmonte, Juan Carlos; Rossi, Derrick J.; Thomson, James A.; Eggan, Kevin; Daley, George Q.; Goldstein, Lawrence S.; Zhang, Kun