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1
Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants
Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants
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Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants

Chachoua, 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 Inc

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2
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O'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, Jay

Science (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 Science

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3
Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention
Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention
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Comprehensive Molecular Profiling of Intrahepatic and Extrahepatic Cholangiocarcinomas: Potential Targets for Intervention

Lowery, 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 K

Clinical cancer research, 2018-09, Vol.24 (17), p.4154-4161 [Periódico revisado por pares]

United States

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4
Severe infectious diseases of childhood as monogenic inborn errors of immunity
Severe infectious diseases of childhood as monogenic inborn errors of immunity
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Severe infectious diseases of childhood as monogenic inborn errors of immunity

Casanova, Jean-Laurent

Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (51), p.E7128-E7137 [Periódico revisado por pares]

United States: National Academy of Sciences

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5
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
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Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Abdel-Rahman, Mohamed H ; Pilarski, Robert ; Cebulla, Colleen M ; Massengill, James B ; Christopher, Benjamin N ; Boru, Getachew ; Hovland, Peter ; Davidorf, Frederick H

Journal of medical genetics, 2011-12, Vol.48 (12), p.856-859 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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6
Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function
Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function
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Multivariate genome-wide analysis of immunoglobulin G N-glycosylation identifies new loci pleiotropic with immune function

Shadrina, 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 A

Human molecular genetics, 2021-06, Vol.30 (13), p.1259-1270 [Periódico revisado por pares]

England: Oxford University Press

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7
Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator
Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator
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Evolutionary history of tuberculosis shaped by conserved mutations in the PhoPR virulence regulator

Gonzalo-Asensio, Jesús ; Malaga, Wladimir ; Pawlik, Alexandre ; Astarie-Dequeker, Catherine ; Passemar, Charlotte ; Moreau, Flavie ; Laval, Françoise ; Daffé, Mamadou ; Martin, Carlos ; Brosch, Roland ; Guilhot, Christophe

Proceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11491-11496 [Periódico revisado por pares]

United States: National Academy of Sciences

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8
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics
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Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

Beaumont, Robin N ; Warrington, Nicole M ; Cavadino, Alana ; Tyrrell, Jessica ; Nodzenski, Michael ; Horikoshi, Momoko ; Geller, Frank ; Myhre, Ronny ; Richmond, Rebecca C ; Paternoster, Lavinia ; Bradfield, Jonathan P ; Kreiner-Møller, Eskil ; Huikari, Ville ; Metrustry, Sarah ; Lunetta, Kathryn L ; Painter, Jodie N ; Hottenga, Jouke-Jan ; Allard, Catherine ; Barton, Sheila J ; Espinosa, Ana ; Marsh, Julie A ; Potter, Catherine ; Zhang, Ge ; Ang, Wei ; Berry, Diane J ; Bouchard, Luigi ; Das, Shikta ; Hakonarson, Hakon ; Heikkinen, Jani ; Helgeland, Øyvind ; Hocher, Berthold ; Hofman, Albert ; Inskip, Hazel M ; Jones, Samuel E ; Kogevinas, Manolis ; Lind, Penelope A ; Marullo, Letizia ; Medland, Sarah E ; Murray, Anna ; Murray, Jeffrey C ; Njølstad, Pål R ; Nohr, Ellen A ; Reichetzeder, Christoph ; Ring, Susan M ; Ruth, Katherine S ; Santa-Marina, Loreto ; Scholtens, Denise M ; Sebert, Sylvain ; Sengpiel, Verena ; Tuke, Marcus A ; Vaudel, Marc ; Weedon, Michael N ; Willemsen, Gonneke ; Wood, Andrew R ; Yaghootkar, Hanieh ; Muglia, Louis J ; Bartels, Meike ; Relton, Caroline L ; Pennell, Craig E ; Chatzi, Leda ; Estivill, Xavier ; Holloway, John W ; Boomsma, Dorret I ; Montgomery, Grant W ; Murabito, Joanne M ; Spector, Tim D ; Power, Christine ; Järvelin, Marjo-Ritta ; Bisgaard, Hans ; Grant, Struan F A ; Sørensen, Thorkild I A ; Jaddoe, Vincent W ; Jacobsson, Bo ; Melbye, Mads ; McCarthy, Mark I ; Hattersley, Andrew T ; Hayes, M Geoffrey ; Frayling, Timothy M ; Hivert, Marie-France ; Felix, Janine F ; Hyppönen, Elina ; Lowe, William L ; Evans, David M ; Lawlor, Debbie A ; Feenstra, Bjarke ; Freathy, Rachel M

Human molecular genetics, 2018-02, Vol.27 (4), p.742-756 [Periódico revisado por pares]

England: Oxford University Press

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9
Genetic determinants of plasma triglycerides
Genetic determinants of plasma triglycerides
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Genetic determinants of plasma triglycerides

Johansen, Christopher T. ; Kathiresan, Sekar ; Hegele, Robert A.

Journal of lipid research, 2011-02, Vol.52 (2), p.189-206 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
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Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Sykiotis, Gerasimos P. ; Plummer, Lacey ; Hughes, Virginia A. ; Au, Margaret ; Durrani, Sadia ; Nayak-Young, Sadhana ; Dwyer, Andrew A. ; Quinton, Richard ; Hall, Janet E. ; Gusella, James F. ; Seminara, Stephanie B. ; Crowley, William F. ; Pitteloud, Nelly ; Donahoe, Patricia K.

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (34), p.15140-15144 [Periódico revisado por pares]

United States: National Academy of Sciences

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