Search
Add filters:
Use filters to refine the search results.
Item hits:
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2016 | Clinical impact of recurrently mutated genes on lymphoma diagnostics | Rosenquist, Richard; Rosenwald, Andreas; Du, Ming-Qing; Gaidano, Gianluca; Groenen, Patricia; Wotherspoon, Andrew; Ghia, Paolo; Gaulard, Philippe; Campo Güerri, Elias; Stamatopoulos, Kostas |
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| Dec-2016 | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype | Lucariello, Mario; Vidal, Enrique; Vidal, Silvia; Sáez, Mauricio A.; Roa, Laura; Huertas, Dori; Pineda Marfà, Mercè; Dalfó Capella, Esther; Dopazo, Joaquín; Jurado, Paola; Armstrong i Morón, Judith; Esteller, Manel |
| 24-Dec-2014 | Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations | Matos, Liliana; Canals Montferrer, Isaac; Dridi, Larbi; Choi, Yoo; Prata, Maria Joao; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Pshezhetsky, Alexey V.; Grinberg Vaisman, Daniel Raúl; Alves, Sandra; Vilageliu i Arqués, Lluïsa |
| 9-Aug-2015 | La vida interior d'un tomàquet de mida XXXL | Bueno i Torrens, David, 1965- |
| 23-Jan-2015 | Genetic and molecular analysis or Sanfilippo C syndrome. Generation of a neuronal model using human induced pluripotent stem (iPS) cells and therapeutic strategies | Canals Montferrer, Isaac |
| 29-Jan-2014 | Telomere length shows no association with BRCA1 and BRCA2 mutation status | Killick, Emma; Tymrakiewicz, Malgorzata; Cieza-Borrella, Clara; Smith, Paula; Thompson, Deborah J.; Pooley, Karen A.; Easton, Douglas F.; Bancroft, Elizabeth K.; Page, Elizabeth; Leongamornlert, Daniel; IMPACT Study Collaborators; Kote-Jarai, Zsofia; Eeles, Rosalind A.; Blanco Guillermo, Ignacio; Salinas Masdeu, Mònica |
| 20-Sep-2016 | Les pinces de polipurines com a eina d'edició gènica (Seminaris de Recerca 2016) | Solé Ferré, Anna; Ciudad i Gómez, Carlos Julián; Chasin, Larry; Noé Mata, Verónica |
| 1-Jan-2015 | Human genotoxic study carried out two years after oil exposure during the clean-up activities using two different biomarkers | Biern, Gloria; Giraldo, Jesús; Zock, Jan-Paul; Monyarch, Gemma; Espinosa Cardiel, Ana; Rodríguez-Trigo, Gema; Gómez, Federico Pablo; Pozo-Rodríguez, Francisco; Barberà i Mir, Joan Albert; Fuster, Carme |
| 6-Nov-2015 | Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting | Sánchez Delgado, Marta; Martín Trujillo, Alex; Tayama, Chiharu; Vidal, Enrique; Esteller, Manel; Iglesias Platas, Isabel; Deo, Nandita; Barney, Olivia; Maclean, Ken; Hata, Kenichiro; Nakabayashi, Kazuhiko; Fisher, Rosemary; Monk, David |
Discover
Subject
Date issued
- 56 2020 - 2024
- 111 2010 - 2019
- 20 2001 - 2009