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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 175, pp. 100 - 105.e2
Journal Article
Journal Article
Lancet Global Health, ISSN 2214-109X, 2017, Volume 5, Issue 4, pp. e458 - e466
Journal Article
by Schönbach, Etienne M and Schönbach, Etienne and Strauss, Rupert W and Kong, Xiangrong and Muñoz, Beatriz and Ibrahim, Mohamed A and Sunness, Janet S and Birch, David and Birch, David G and Hahn, Gesa Astrid and Hahn, Gesa-Astrid and Nasser, Fadi and Zrenner, Eberhart and Sadda, Srinivas and Sadda, SriniVas R and West, Sheila K and West, Sheila and Scholl, Hendrik P.N and Wolfson, Yulia and Bittencourt, Millena and Shah, Syed Mahmood and Ahmed, Mohamed and Fujinami, Kaoru and Traboulsi, Elias and Ehlers, Justis and Marino, Meghan and Crowe, Susan and Briggs, Rachael and Borer, Angela and Pinter, Anne and Fecko, Tami and Burgnoni, Nikki and Applegate, Carol and Russell, Leslie and Michaelides, Michel and Esposti, Simona Degli and Moore, Anthony and Webster, Andrew and Connor, Sophie and Barnfield, Jade and Salchi, Zaid and Alfageme, Clara and McCudden, Victoria and Pefkianaki, Maria and Aboshiha, Jonathan and Liew, Gerald and Holder, Graham and Robson, Anthony and King, Alexa and Narvaez, Daniela Ivanova Cajas and Barnard, Katy and Grigg, Catherine and Dunbar, Hannah and Obadeyi, Yetunde and Girard-Claudon, Karine and Swann, Hilary and Rughani, Avani and Amoah, Charles and Carrington, Dominic and Bibi, Kanom and Co, Emerson Ting and Illiyas, Mohamed Nafaz and Begum, Hamida and Carter, Andrew and Georgiou, Anne and Lewism, Selma and Shaheen, Saddaf and Shinmar, Harpreet and Burton, Linda and Bernstein, Paul and Wegner, Kimberley and Sawyer, Briana Lauren and Carlstrom, Bonnie and Farnsworth, Kellian and Fry, Cyrie and Chandler, Melissa and Jenkins, Dennis and Jenkins, Glen and Creel, Donnel and Wang, Yi-Zhong and Rodriguez, Luis and Locke, Kirsten and Klein, Martin and Mejia, Paulina and Cideciyan, Artur V and Jacobson, Samuel G and Schwartz, Sharon B and Matsui, Rodrigo and Gruzensky, Michaela and Charng, Jason and Roman, Alejandro J and Wilhelm, Barbara and Peters, Tobias and Beier, Benjamin and Koenig, Tilman and Kramer, Susanne and Kramer, Brendan and Sahel, José-Alain and Mohand-Said, Saddek and Audo, Isabelle and ... and Progstar Study Grp and ProgStar Study Group
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 54 - 61
To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability. Multicenter, international, prospective cohort... 
OPHTHALMOLOGY | ATROPHY SECONDARY | VISUAL-ACUITY LOSS | NATURAL-HISTORY | NIDEK MP-1 | PROGRESSION | FEATURES | Medicine, Experimental | Medical research | Atrophy | Studies | Reading | Disease | Clinical trials | Software | Mutation | Ophthalmology | Patients | Age
Journal Article
by Koboldt, Daniel C and Fulton, Robert S and McLellan, Michael D and Schmidt, Heather and Kalicki-Veizer, Joelle and McMichael, Joshua F and Fulton, Lucinda L and Dooling, David J and Ding, Li and Mardis, Elaine R and Wilson, Richard K and Ally, Adrian and Balasundaram, Miruna and Butterfield, Yaron S. N and Carlsen, Rebecca and Carter, Candace and Chu, Andy and Chuah, Eric and Chun, Hye-Jung E and Coope, Robin J. N and Dhalla, Noreen and Guin, Ranabir and Hirst, Carrie and Hirst, Martin and Holt, Robert A and Lee, Darlene and Li, Haiyan I and Mayo, Michael and Moore, Richard A and Mungall, Andrew J and Pleasance, Erin and Robertson, A. Gordon and Schein, Jacqueline E and Shafiei, Arash and Sipahimalani, Payal and Slobodan, Jared R and Stoll, Dominik and Tam, Angela and Thiessen, Nina and Varhol, Richard J and Wye, Natasja and Zeng, Thomas and Zhao, Yongjun and Birol, Inanc and Jones, Steven J. M and Marra, Marco A and Cherniack, Andrew D and Saksena, Gordon and Onofrio, Robert C and Pho, Nam H and Carter, Scott L and Schumacher, Steven E and Tabak, Barbara and Hernandez, Bryan and Gentry, Jeff and Nguyen, Huy and Crenshaw, Andrew and Ardlie, Kristin and Beroukhim, Rameen and Winckler, Wendy and Getz, Gad and Gabriel, Stacey B and Meyerson, Matthew and Chin, Lynda and Kucherlapati, Raju and Hoadley, Katherine A and Auman, J. Todd and Fan, Cheng and Turman, Yidi J and Shi, Yan and Li, Ling and Topal, Michael D and He, Xiaping and Chao, Hann-Hsiang and Prat, Aleix and Silva, Grace O and Iglesia, Michael D and Zhao, Wei and Usary, Jerry and Berg, Jonathan S and Adams, Michael and Booker, Jessica and Wu, Junyuan and Gulabani, Anisha and Bodenheimer, Tom and Hoyle, Alan P and Simons, Janae V and Soloway, Matthew G and Mose, Lisle E and Jefferys, Stuart R and Balu, Saianand and Parker, Joel S and Hayes, D. Neil and Perou, Charles M and Malik, Simeen and Mahurkar, Swapna and Shen, Hui and Weisenberger, Daniel J and Triche Jr, Timothy and Lai, Phillip H and ... and Canc Genome Atlas Network and Cancer Genome Atlas Network and The Cancer Genome Atlas Network
Nature, ISSN 0028-0836, 10/2012, Volume 490, Issue 7418, pp. 61 - 70
We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and... 
PATHWAYS | TARGET | BASAL-LIKE | SUPPRESSOR | PIK3CA GENE | SUBTYPES | MULTIDISCIPLINARY SCIENCES | HIGH-FREQUENCY | LUMINAL-B | CANCER | MUTATIONAL EVOLUTION | GATA3 Transcription Factor - genetics | Receptors, Estrogen - metabolism | Oligonucleotide Array Sequence Analysis | Genomics | Humans | Gene Expression Regulation, Neoplastic | Ovarian Neoplasms - pathology | Gene Expression Profiling | Breast Neoplasms - metabolism | Ovarian Neoplasms - genetics | DNA Methylation | DNA Mutational Analysis | Female | Genes, BRCA1 | Genes, Neoplasm - genetics | Breast Neoplasms - classification | RNA, Messenger - genetics | Retinoblastoma Protein - metabolism | DNA Copy Number Variations - genetics | Genes, p53 - genetics | Mutation - genetics | Genetic Heterogeneity | Genome, Human - genetics | Phosphatidylinositol 3-Kinases - genetics | Exome - genetics | Breast Neoplasms - genetics | Class I Phosphatidylinositol 3-Kinases | Breast Neoplasms - pathology | Retinoblastoma Protein - genetics | Genes, erbB-2 - genetics | Proteomics | Protein Array Analysis | RNA, Neoplasm - genetics | MAP Kinase Kinase Kinase 1 - genetics | MicroRNAs - genetics | Breast tumors | Gene mutations | Oncology, Experimental | Genetic aspects | Research | Identification and classification | Cancer | Proteins | DNA methylation | Genetics | Breast cancer | Mutation | Càncer de mama | Oncologia | Oncology | Gene expression | Expressió gènica | Genòmica
Journal Article