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Material Type: Artigo
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Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse modelPrunier, Fabrice ; Terrien, Gwenola ; Le Corre, Yannick ; Apana, Ailea L Y ; Bière, Loïc ; Kauffenstein, Gilles ; Furber, Alain ; Bergen, Arthur A B ; Gorgels, Theo G M F ; Le Saux, Olivier ; Leftheriotis, Georges ; Martin, Ludovic Lionetti, VincenzoPloS one, 2013-07, Vol.8 (7), p.e68700-e68700 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Meis1 regulates postnatal cardiomyocyte cell cycle arrestMahmoud, Ahmed I ; Kocabas, Fatih ; Muralidhar, Shalini A ; Kimura, Wataru ; Koura, Ahmed S ; Thet, Suwannee ; Porrello, Enzo R ; Sadek, Hesham ANature (London), 2013-05, Vol.497 (7448), p.249-253 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Transcriptomic profiling and genomic mutational analysis of Human coronavirus (HCoV)-229E -infected human cellsFriedman, Nehemya ; Jacob-Hirsch, Jasmine ; Drori, Yaron ; Eran, Eyal ; Kol, Nitzan ; Nayshool, Omri ; Mendelson, Ella ; Rechavi, Gideon ; Mandelboim, Michal Kumar, BinodPloS one, 2021-02, Vol.16 (2), p.e0247128-e0247128 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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The human urine metabolomeBouatra, Souhaila ; Aziat, Farid ; Mandal, Rupasri ; Guo, An Chi ; Wilson, Michael R ; Knox, Craig ; Bjorndahl, Trent C ; Krishnamurthy, Ramanarayan ; Saleem, Fozia ; Liu, Philip ; Dame, Zerihun T ; Poelzer, Jenna ; Huynh, Jessica ; Yallou, Faizath S ; Psychogios, Nick ; Dong, Edison ; Bogumil, Ralf ; Roehring, Cornelia ; Wishart, David S Dzeja, PetrasPloS one, 2013-09, Vol.8 (9), p.e73076 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Human Serum MetabolomePsychogios, Nikolaos ; Hau, David D ; Peng, Jun ; Guo, An Chi ; Mandal, Rupasri ; Bouatra, Souhaila ; Sinelnikov, Igor ; Krishnamurthy, Ramanarayan ; Eisner, Roman ; Gautam, Bijaya ; Young, Nelson ; Xia, Jianguo ; Knox, Craig ; Dong, Edison ; Huang, Paul ; Hollander, Zsuzsanna ; Pedersen, Theresa L ; Smith, Steven R ; Bamforth, Fiona ; Greiner, Russ ; McManus, Bruce ; Newman, John W ; Goodfriend, Theodore ; Wishart, David S ; Flower, Darren Flower, DarrenPloS one, 2011-02, Vol.6 (2), p.e16957-e16957 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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The Integrative Human Microbiome ProjectProctor, Lita M ; Creasy, Heather H ; Fettweis, Jennifer M ; Lloyd-Price, Jason ; Mahurkar, Anup ; Zhou, Wenyu ; Buck, Gregory A ; Snyder, Michael P ; Strauss, Jerome F ; Weinstock, George M ; White, Owen ; Huttenhower, CurtisNature (London), 2019-05, Vol.569 (7758), p.641-648 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Bystander CD8 + T cells are abundant and phenotypically distinct in human tumour infiltratesSimoni, Yannick ; Becht, Etienne ; Fehlings, Michael ; Loh, Chiew Yee ; Koo, Si-Lin ; Teng, Karen Wei Weng ; Yeong, Joe Poh Sheng ; Nahar, Rahul ; Zhang, Tong ; Kared, Hassen ; Duan, Kaibo ; Ang, Nicholas ; Poidinger, Michael ; Lee, Yin Yeng ; Larbi, Anis ; Khng, Alexis J ; Tan, Emile ; Fu, Cherylin ; Mathew, Ronnie ; Teo, Melissa ; Lim, Wan Teck ; Toh, Chee Keong ; Ong, Boon-Hean ; Koh, Tina ; Hillmer, Axel M ; Takano, Angela ; Lim, Tony Kiat Hon ; Tan, Eng Huat ; Zhai, Weiwei ; Tan, Daniel S W ; Tan, Iain Beehuat ; Newell, Evan WNature (London), 2018-05, Vol.557 (7706), p.575-579 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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A draft human pangenome referenceLiao, Wen-Wei ; Asri, Mobin ; Ebler, Jana ; Doerr, Daniel ; Haukness, Marina ; Hickey, Glenn ; Lu, Shuangjia ; Monlong, Jean ; Abel, Haley J ; Buonaiuto, Silvia ; Chang, Xian H ; Cheng, Haoyu ; Chu, Justin ; Colonna, Vincenza ; Feng, Xiaowen ; Fischer, Christian ; Fulton, Robert S ; Garg, Shilpa ; Groza, Cristian ; Guarracino, Andrea ; Harvey, William T ; Howe, Kerstin ; Jain, Miten ; Lu, Tsung-Yu ; Markello, Charles ; Martin, Fergal J ; Mitchell, Matthew W ; Munson, Katherine M ; Mwaniki, Moses Njagi ; Novak, Adam M ; Olsen, Hugh E ; Pesout, Trevor ; Porubsky, David ; Prins, Pjotr ; Tomlinson, Chad ; Villani, Flavia ; Vollger, Mitchell R ; Baid, Gunjan ; Billis, Konstantinos ; Carroll, Andrew ; Chang, Pi-Chuan ; Cody, Sarah ; Cook, Daniel E ; Cook-Deegan, Robert M ; Diekhans, Mark ; Fedrigo, Olivier ; Felsenfeld, Adam L ; Formenti, Giulio ; Frankish, Adam ; Gao, Yan ; Garrison, Nanibaa' A ; Giron, Carlos Garcia ; Green, Richard E ; Haggerty, Leanne ; Hoekzema, Kendra ; Hourlier, Thibaut ; Ji, Hanlee P ; Kenny, Eimear E ; Koenig, Barbara A ; Kolesnikov, Alexey ; Korbel, Jan O ; Kordosky, Jennifer ; Koren, Sergey ; Lewis, Alexandra P ; Marco-Sola, Santiago ; Marijon, Pierre ; McCartney, Ann ; McDaniel, Jennifer ; Mountcastle, Jacquelyn ; Nattestad, Maria ; Olson, Nathan D ; Popejoy, Alice B ; Puiu, Daniela ; Rautiainen, Mikko ; Rhie, Arang ; Sacco, Samuel ; Sanders, Ashley D ; Schneider, Valerie A ; Shafin, Kishwar ; Smith, Michael W ; Sofia, Heidi J ; Abou Tayoun, Ahmad N ; Thibaud-Nissen, Françoise ; Tricomi, Francesca Floriana ; Wagner, Justin ; Walenz, Brian ; Wood, Jonathan M D ; Zimin, Aleksey V ; Bourque, Guillaume ; Chaisson, Mark J P ; Flicek, Paul ; Zook, Justin M ; Eichler, Evan E ; Haussler, David ; Wang, Ting ; Jarvis, Erich D ; Miga, Karen H ; Garrison, Erik ; Hall, Ira M ; Paten, BenedictNature (London), 2023-05, Vol.617 (7960), p.312-324 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Single-cell reconstruction of the early maternal-fetal interface in humansVento-Tormo, Roser ; Efremova, Mirjana ; Botting, Rachel A ; Turco, Margherita Y ; Vento-Tormo, Miquel ; Meyer, Kerstin B ; Park, Jong-Eun ; Stephenson, Emily ; Polański, Krzysztof ; Goncalves, Angela ; Gardner, Lucy ; Holmqvist, Staffan ; Henriksson, Johan ; Zou, Angela ; Sharkey, Andrew M ; Millar, Ben ; Innes, Barbara ; Wood, Laura ; Wilbrey-Clark, Anna ; Payne, Rebecca P ; Ivarsson, Martin A ; Lisgo, Steve ; Filby, Andrew ; Rowitch, David H ; Bulmer, Judith N ; Wright, Gavin J ; Stubbington, Michael J T ; Haniffa, Muzlifah ; Moffett, Ashley ; Teichmann, Sarah ANature (London), 2018-11, Vol.563 (7731), p.347-353 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The mutational constraint spectrum quantified from variation in 141,456 humansKarczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel GNature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |