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1 |
Material Type: Artigo de Congresso
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Amplificative-dissipative tunneling the problem of genetic mutationHugo Sanchez de Araujo Miled Hassan Youssef Moussa; Semana Integrada do Instituto de Física de São Carlos - SIFSC (12. 2022 São Carlos)Livro de Resumos São Carlos: Instituto de Física de São Carlos - IFSC, 2022São Carlos Instituto de Física de São Carlos - IFSC 2022Localização: IFSC - Inst. Física de São Carlos (PROD034104 )(Acessar) |
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2 |
Material Type: Artigo
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Time course of central precocious puberty development caused by an MKRN3 gene mutation a prismatic careMonica F. Stecchini Delanie B Macedo; Ana Claudia S Reis; Ana Paula Abreu; Ayrton Custódio Moreira; Margaret de Castro; Ursula B Kaiser; Ana Claudia Latronico; Sonir Roberto Rauber AntoniniHormone Research in Paediatrics Basel v. 86, n. 2, p. 126-130, 2016Basel 2016Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2853580 Estantes Deslizantes )(Acessar) |
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3 |
Material Type: Artigo
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A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosisSherene Shalhub Peter H Byers; Kelli L Hicks; Dawn M Coleman; Frank M Davis; Giovanni De Caridi; K. Nicole Weaver; Erin M Miller; Marc L Schermerhorn; Katie Shean; Maurício Serra RibeiroJournal of Vascular Surgery Philadelphia v. 71, n. 1, p. 149-157, 2020Philadelphia 2020Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 3125413 Acervo Digital )(Acessar) |
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4 |
Material Type: Artigo
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Diagnóstico molecular na prática clínica: visão do endocrinologista; Molecular diagnosis in the clinical practice: an endocrinologist’s perspectiveFerraz-De-Souza, BrunoRevista de Medicina; v. 94 n. 4 (2015); 201-210Universidade de São Paulo. Faculdade de Medicina 2015-12-22Acesso online |
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5 |
Material Type: Artigo
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Mutational landscape and significance across 12 major cancer typesKandoth, Cyriac ; McLellan, Michael D ; Vandin, Fabio ; Ye, Kai ; Niu, Beifang ; Lu, Charles ; Xie, Mingchao ; Zhang, Qunyuan ; McMichael, Joshua F ; Wyczalkowski, Matthew A ; Leiserson, Mark D M ; Miller, Christopher A ; Welch, John S ; Walter, Matthew J ; Wendl, Michael C ; Ley, Timothy J ; Wilson, Richard K ; Raphael, Benjamin J ; Ding, LiNature (London), 2013-10, Vol.502 (7471), p.333-339 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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Synaptic, transcriptional and chromatin genes disrupted in autismDe Rubeis, Silvia ; He, Xin ; Goldberg, Arthur P ; Poultney, Christopher S ; Samocha, Kaitlin ; Cicek, A Erucment ; Kou, Yan ; Liu, Li ; Fromer, Menachem ; Walker, Susan ; Singh, Tarinder ; Klei, Lambertus ; Kosmicki, Jack ; Shih-Chen, Fu ; Aleksic, Branko ; Biscaldi, Monica ; Bolton, Patrick F ; Brownfeld, Jessica M ; Cai, Jinlu ; Campbell, Nicholas G ; Carracedo, Angel ; Chahrour, Maria H ; Chiocchetti, Andreas G ; Coon, Hilary ; Crawford, Emily L ; Curran, Sarah R ; Dawson, Geraldine ; Duketis, Eftichia ; Fernandez, Bridget A ; Gallagher, Louise ; Geller, Evan ; Guter, Stephen J ; Hill, R Sean ; Ionita-Laza, Juliana ; Jimenz Gonzalez, Patricia ; Kilpinen, Helena ; Klauck, Sabine M ; Kolevzon, Alexander ; Lee, Irene ; Lei, Irene ; Lei, Jing ; Lehtimäki, Terho ; Lin, Chiao-Feng ; Ma'ayan, Avi ; Marshall, Christian R ; McInnes, Alison L ; Neale, Benjamin ; Owen, Michael J ; Ozaki, Noriio ; Parellada, Mara ; Parr, Jeremy R ; Purcell, Shaun ; Puura, Kaija ; Rajagopalan, Deepthi ; Rehnström, Karola ; Reichenberg, Abraham ; Sabo, Aniko ; Sachse, Michael ; Sanders, Stephan J ; Schafer, Chad ; Schulte-Rüther, Martin ; Skuse, David ; Stevens, Christine ; Szatmari, Peter ; Tammimies, Kristiina ; Valladares, Otto ; Voran, Annette ; Li-San, Wang ; Weiss, Lauren A ; Willsey, A Jeremy ; Yu, Timothy W ; Yuen, Ryan K C ; Cook, Edwin H ; Freitag, Christine M ; Gill, Michael ; Hultman, Christina M ; Lehner, Thomas ; Palotie, Aaarno ; Schellenberg, Gerard D ; Sklar, Pamela ; State, Matthew W ; Sutcliffe, James S ; Walsh, Christiopher A ; Scherer, Stephen W ; Zwick, Michael E ; Barett, Jeffrey C ; Cutler, David J ; Roeder, Kathryn ; Devlin, Bernie ; Daly, Mark J ; Buxbaum, Joseph DNature (London), 2014-11, Vol.515 (7526), p.209-215 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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The landscape of genomic alterations across childhood cancersGröbner, Susanne N ; Worst, Barbara C ; Weischenfeldt, Joachim ; Buchhalter, Ivo ; Kleinheinz, Kortine ; Rudneva, Vasilisa A ; Johann, Pascal D ; Balasubramanian, Gnana Prakash ; Segura-Wang, Maia ; Brabetz, Sebastian ; Bender, Sebastian ; Hutter, Barbara ; Sturm, Dominik ; Pfaff, Elke ; Hübschmann, Daniel ; Zipprich, Gideon ; Heinold, Michael ; Eils, Jürgen ; Lawerenz, Christian ; Erkek, Serap ; Lambo, Sander ; Waszak, Sebastian ; Blattmann, Claudia ; Borkhardt, Arndt ; Kuhlen, Michaela ; Eggert, Angelika ; Fulda, Simone ; Gessler, Manfred ; Wegert, Jenny ; Kappler, Roland ; Baumhoer, Daniel ; Burdach, Stefan ; Kirschner-Schwabe, Renate ; Kontny, Udo ; Kulozik, Andreas E ; Lohmann, Dietmar ; Hettmer, Simone ; Eckert, Cornelia ; Bielack, Stefan ; Nathrath, Michaela ; Niemeyer, Charlotte ; Richter, Günther H ; Schulte, Johannes ; Siebert, Reiner ; Westermann, Frank ; Molenaar, Jan J ; Vassal, Gilles ; Witt, Hendrik ; Burkhardt, Birgit ; Kratz, Christian P ; Witt, Olaf ; van Tilburg, Cornelis M ; Kramm, Christof M ; Fleischhack, Gudrun ; Dirksen, Uta ; Rutkowski, Stefan ; Frühwald, Michael ; von Hoff, Katja ; Wolf, Stephan ; Klingebiel, Thomas ; Koscielniak, Ewa ; Landgraf, Pablo ; Koster, Jan ; Resnick, Adam C ; Zhang, Jinghui ; Liu, Yanling ; Zhou, Xin ; Waanders, Angela J ; Zwijnenburg, Danny A ; Raman, Pichai ; Brors, Benedikt ; Weber, Ursula D ; Northcott, Paul A ; Pajtler, Kristian W ; Kool, Marcel ; Piro, Rosario M ; Korbel, Jan O ; Schlesner, Matthias ; Eils, Roland ; Jones, David T W ; Lichter, Peter ; Chavez, Lukas ; Zapatka, Marc ; Pfister, Stefan MNature (London), 2018-03, Vol.555 (7696), p.321-327 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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The repertoire of mutational signatures in human cancerAlexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael RNature (London), 2020-02, Vol.578 (7793), p.94-101 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Programmable editing of a target base in genomic DNA without double-stranded DNA cleavageKomor, Alexis C ; Kim, Yongjoo B ; Packer, Michael S ; Zuris, John A ; Liu, David RNature (London), 2016-05, Vol.533 (7603), p.420-424 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomesRheinbay, Esther ; Nielsen, Morten Muhlig ; Abascal, Federico ; Wala, Jeremiah A ; Shapira, Ofer ; Tiao, Grace ; Hornshøj, Henrik ; Hess, Julian M ; Juul, Randi Istrup ; Lin, Ziao ; Feuerbach, Lars ; Sabarinathan, Radhakrishnan ; Madsen, Tobias ; Kim, Jaegil ; Mularoni, Loris ; Shuai, Shimin ; Lanzós, Andrés ; Herrmann, Carl ; Maruvka, Yosef E ; Shen, Ciyue ; Amin, Samirkumar B ; Bandopadhayay, Pratiti ; Bertl, Johanna ; Boroevich, Keith A ; Busanovich, John ; Carlevaro-Fita, Joana ; Chakravarty, Dimple ; Chan, Calvin Wing Yiu ; Craft, David ; Dhingra, Priyanka ; Diamanti, Klev ; Fonseca, Nuno A ; Gonzalez-Perez, Abel ; Guo, Qianyun ; Hamilton, Mark P ; Haradhvala, Nicholas J ; Hong, Chen ; Isaev, Keren ; Johnson, Todd A ; Juul, Malene ; Kahles, Andre ; Kahraman, Abdullah ; Kim, Youngwook ; Komorowski, Jan ; Kumar, Kiran ; Kumar, Sushant ; Lee, Donghoon ; Lehmann, Kjong-Van ; Li, Yilong ; Liu, Eric Minwei ; Lochovsky, Lucas ; Park, Keunchil ; Pich, Oriol ; Roberts, Nicola D ; Saksena, Gordon ; Schumacher, Steven E ; Sidiropoulos, Nikos ; Sieverling, Lina ; Sinnott-Armstrong, Nasa ; Stewart, Chip ; Tamborero, David ; Tubio, Jose M C ; Umer, Husen M ; Uusküla-Reimand, Liis ; Wadelius, Claes ; Wadi, Lina ; Yao, Xiaotong ; Zhang, Cheng-Zhong ; Zhang, Jing ; Haber, James E ; Hobolth, Asger ; Imielinski, Marcin ; Kellis, Manolis ; Lawrence, Michael S ; von Mering, Christian ; Nakagawa, Hidewaki ; Raphael, Benjamin J ; Rubin, Mark A ; Sander, Chris ; Stein, Lincoln D ; Stuart, Joshua M ; Tsunoda, Tatsuhiko ; Wheeler, David A ; Johnson, Rory ; Reimand, Jüri ; Gerstein, Mark ; Khurana, Ekta ; Campbell, Peter J ; López-Bigas, Núria ; Weischenfeldt, Joachim ; Beroukhim, Rameen ; Martincorena, Iñigo ; Pedersen, Jakob Skou ; Getz, GadNature (London), 2020-02, Vol.578 (7793), p.102-111 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |