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1 |
Material Type: Artigo
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Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutantsChachoua, Ilyas ; Pecquet, Christian ; El-Khoury, Mira ; Nivarthi, Harini ; Albu, Roxana-Irina ; Marty, Caroline ; Gryshkova, Vitalina ; Defour, Jean-Philippe ; Vertenoeil, Gaëlle ; Ngo, Anna ; Koay, Ann ; Raslova, Hana ; Courtoy, Pierre J. ; Choong, Meng Ling ; Plo, Isabelle ; Vainchenker, William ; Kralovics, Robert ; Constantinescu, Stefan N.Blood, 2016-03, Vol.127 (10), p.1325-1335 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum DisordersO'Roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Roie ; O'Day, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichler, Evan E. ; Shendure, JayScience (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for InterventionLowery, Maeve A ; Ptashkin, Ryan ; Jordan, Emmet ; Berger, Michael F ; Zehir, Ahmet ; Capanu, Marinela ; Kemeny, Nancy E ; O'Reilly, Eileen M ; El-Dika, Imane ; Jarnagin, William R ; Harding, James J ; D'Angelica, Michael I ; Cercek, Andrea ; Hechtman, Jaclyn F ; Solit, David B ; Schultz, Nikolaus ; Hyman, David M ; Klimstra, David S ; Saltz, Leonard B ; Abou-Alfa, Ghassan KClinical cancer research, 2018-09, Vol.24 (17), p.4154-4161 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Severe infectious diseases of childhood as monogenic inborn errors of immunityCasanova, Jean-LaurentProceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (51), p.E7128-E7137 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune functionShadrina, Alexandra S ; Zlobin, Alexander S ; Zaytseva, Olga O ; Klarić, Lucija ; Sharapov, Sodbo Z ; D Pakhomov, Eugene ; Perola, Marcus ; Esko, Tonu ; Hayward, Caroline ; Wilson, James F ; Lauc, Gordan ; Aulchenko, Yurii S ; Tsepilov, Yakov AHuman molecular genetics, 2021-06, Vol.30 (13), p.1259-1270 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulatorGonzalo-Asensio, Jesús ; Malaga, Wladimir ; Pawlik, Alexandre ; Astarie-Dequeker, Catherine ; Passemar, Charlotte ; Moreau, Flavie ; Laval, Françoise ; Daffé, Mamadou ; Martin, Carlos ; Brosch, Roland ; Guilhot, ChristopheProceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11491-11496 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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LinkedOmics: analyzing multi-omics data within and across 32 cancer typesVasaikar, Suhas V ; Straub, Peter ; Wang, Jing ; Zhang, BingNucleic acids research, 2018-01, Vol.46 (D1), p.D956-D963 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neckPersson, Marta ; Andrén, Ywonne ; Mark, Joachim ; Horlings, Hugo M ; Persson, Fredrik ; Stenman, GöranProceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (44), p.18740-18744 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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The genomic landscape of mantle cell lymphoma is related to the epigenetically determined chromatin state of normal B cellsZhang, Jenny ; Jima, Dereje ; Moffitt, Andrea B. ; Liu, Qingquan ; Czader, Magdalena ; Hsi, Eric D. ; Fedoriw, Yuri ; Dunphy, Cherie H. ; Richards, Kristy L. ; Gill, Javed I. ; Sun, Zhen ; Love, Cassandra ; Scotland, Paula ; Lock, Eric ; Levy, Shawn ; Hsu, David S. ; Dunson, David ; Dave, Sandeep S.Blood, 2014-05, Vol.123 (19), p.2988-2996 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Chromatin environment, transcriptional regulation, and splicing distinguish lincRNAs and mRNAsMelé, Marta ; Mattioli, Kaia ; Mallard, William ; Shechner, David M ; Gerhardinger, Chiara ; Rinn, John LGenome research, 2017-01, Vol.27 (1), p.27-37 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |