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Material Type: Artigo
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A pan-cancer analysis of enhancer expression in nearly 9000 patient samplesHan Chen Houtan Noushmehr; Carlos Gilberto Carlotti Júnior; José Sebastião dos Santos; Rafael Kemp; Ajith Kumar Sankarankutty; Daniela Pretti da Cunha TirapelliCell Cambridge v. 173, n. 2, p. 386-399.e1-e5, 2018Cambridge 2018Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2937533 Estantes Deslizantes )(Acessar) |
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2 |
Material Type: Dissertação de Mestrado
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Análise crítica da distribuição dinâmica do ônus da provaPalmitesta, Mariana AravechiaBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Direito 2015-02-26Acesso online. A biblioteca também possui exemplares impressos. |
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3 |
Material Type: Dissertação de Mestrado
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A inobservãncia do princípio da autonomia privada na revisão judicial dos contratos: uma análise econômico-legalMonti, Rafael Ferreira FumelliBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Direito 2018-04-23Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Artigo
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Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control DataGuo, Michael H. ; Plummer, Lacey ; Chan, Yee-Ming ; Hirschhorn, Joel N. ; Lippincott, Margaret F.American journal of human genetics, 2018-10, Vol.103 (4), p.522-534 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of casesDilliott, Allison A. ; Rouleau, Guy A. ; Farhan, Sali M.K.Neurobiology of aging, 2022-07, Vol.115, p.109-111 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 IndividualsHowrigan, Daniel P. ; Abbott, Liam E. ; Tashman, Katherine ; Singh, Tarjinder ; Watts, Nick ; Lal, Dennis ; Hakonarson, Hakon ; Weckhuysen, Sarah ; Petrovski, Slavé ; Cossette, Patrick ; Cotsapas, Chris ; De Jonghe, Peter ; Guerrini, Renzo ; Marson, Anthony G. ; Depondt, Chantal ; Striano, Pasquale ; Freyer, Catharine ; Regan, Brigid M. ; Leu, Costin ; Johns, Esther M.C. ; Macdonald, Alexandra ; Bahlo, Melanie ; Todaro, Marian ; Stamberger, Hannah ; Sadoway, Tara R. ; Kousiappa, Ioanna ; Tanteles, George A. ; Štěrbová, Katalin ; Kunz, Wolfram S. ; Zsurka, Gábor ; Elger, Christian E. ; Rademacher, Michael ; van Baalen, Andreas ; von Spiczak, Sarah ; Afawi, Zaid ; Canavati, Christina ; Kluger, Gerhard ; Blatt, Ilan ; Weber, Yvonne G. ; Wolking, Stefan ; Rau, Sarah ; Steinhoff, Bernhard J. ; Schulze-Bonhage, Andreas ; Borggräfe, Ingo ; Madeleyn, Rene ; Kälviäinen, Reetta ; Linnankivi, Tarja ; Chung, Seo-Kyung ; Balestrini, Simona ; Braatz, Vera ; Johnson, Michael R. ; Auce, Pauls ; Sham, Pak C. ; Lui, Colin H.T. ; Doherty, Colin P. ; Shukralla, Arif ; El-Naggar, Hany ; Vari, Maria Stella ; Salpietro, Vincenzo ; Tinuper, Paolo ; Gagliardi, Monica ; Montomoli, Martino ; Doccini, Viola ; Inoue, Yushi ; Yamakawa, Kazuhiro ; Tumiene, Birute ; Sadleir, Lynette G. ; Caglayan, S. Hande ; Arslan, Mutluay ; Yis, Uluc ; Topaloglu, Pınar ; Baykan, Betül ; Salman, Barış ; Haryanyan, Garen ; Özkara, Çiğdem ; Poduri, Annapurna ; Shiedley, Beth R. ; Shain, Catherine ; French, Jacqueline A. ; Kuzniecky, Ruben I. ; Hegde, Manu ; Helbig, Katherine L. ; Piras, Federica ; Reif, Andreas ; McQuillin, Andrew ; Johnstone, Mandy ; Palotie, Aarno ; Carvalho, Celia Barreto ; Achtyes, Eric D. ; Azevedo, Maria Helena ; Kotov, Roman ; Lehrer, Douglas S. ; Marder, Stephen R. ; Medeiros, Helena ; Morley, Christopher P. ; Rapaport, Mark H. ; Knowles, James A. ; McCarroll, Steven A. ; Lowenstein, Daniel H. ; Goldstein, David B.American journal of human genetics, 2019-08, Vol.105 (2), p.267-282 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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The global burden of adolescent and young adult cancer in 2019: a systematic analysis for the Global Burden of Disease Study 2019Alvarez, Elysia M ; Force, Lisa M. ; Kisa, Adnan ; Murray, Christopher J L ; Fitzmaurice, Christina ; Kisa, Sezer ; Bleyer, Archie ; Bhakta, Nickhill ; Adult Cancer Collaborators, GBD 2019 Adolescent YoungElsevier 2021-12Texto completo disponível |
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8 |
Material Type: Artigo
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Genome sequence analyses identify novel risk loci for multiple system atrophyChia, Ruth ; Ray, Anindita ; Shah, Zalak ; Ding, Jinhui ; Ruffo, Paola ; Fujita, Masashi ; Menon, Vilas ; Reho, Paolo ; Kaivola, Karri ; Walton, Ronald L. ; Reynolds, Regina H. ; Karra, Ramita ; Sait, Shaimaa ; Akcimen, Fulya ; Diez-Fairen, Monica ; Alvarez, Ignacio ; Fanciulli, Alessandra ; Stefanova, Nadia ; Seppi, Klaus ; Duerr, Susanne ; Leys, Fabian ; Krismer, Florian ; Sidoroff, Victoria ; Zimprich, Alexander ; Pirker, Walter ; Rascol, Olivier ; Foubert-Samier, Alexandra ; Meissner, Wassilios G. ; Tison, François ; Pavy-Le Traon, Anne ; Pellecchia, Maria Teresa ; Barone, Paolo ; Russillo, Maria Claudia ; Marín-Lahoz, Juan ; Kulisevsky, Jaime ; Torres, Soraya ; Mir, Pablo ; Periñán, Maria Teresa ; Proukakis, Christos ; Chelban, Viorica ; Goh, Yee Y. ; Parkkinen, Laura ; Hu, Michele T. ; Kobylecki, Christopher ; Saxon, Jennifer A. ; Rollinson, Sara ; Garland, Emily ; Biaggioni, Italo ; Litvan, Irene ; Rubio, Ileana ; Alcalay, Roy N. ; Kwei, Kimberly T. ; Mao, Qinwen ; Flanagan, Margaret E. ; Castellani, Rudolph J. ; Khurana, Vikram ; Ndayisaba, Alain ; Calvo, Andrea ; Mora, Gabriele ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C. ; Moore, Anni ; Norcliffe-Kaufmann, Lucy ; Palma, Jose-Alberto ; Kaufmann, Horacio ; Kim, Changyoun ; Iba, Michiyo ; Masliah, Eliezer ; Dawson, Ted M. ; Rosenthal, Liana S. ; Pantelyat, Alexander ; Albert, Marilyn S. ; Pletnikova, Olga ; Troncoso, Juan C. ; Infante, Jon ; Lage, Carmen ; Sánchez-Juan, Pascual ; Serrano, Geidy E. ; Beach, Thomas G. ; Pastor, Pau ; Morris, Huw R. ; Albani, Diego ; Clarimon, Jordi ; Hardy, John A. ; Ryten, Mina ; Topol, Eric ; Torkamani, Ali ; Chiò, Adriano ; Bennett, David A. ; De Jager, Philip L. ; Low, Philip A. ; Singer, Wolfgang ; Wszolek, Zbigniew K. ; Dickson, Dennis W. ; Gibbs, J. Raphael ; Dalgard, Clifton L. ; Ross, Owen A. ; Houlden, Henry ; Scholz, Sonja W.Neuron (Cambridge, Mass.), 2024-07, Vol.112 (13), p.2142-2156.e5 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic SpectrumGanna, Andrea ; Satterstrom, F. Kyle ; Zekavat, Seyedeh M. ; Das, Indraniel ; Kurki, Mitja I. ; Churchhouse, Claire ; Alfoldi, Jessica ; Martin, Alicia R. ; Havulinna, Aki S. ; Byrnes, Andrea ; Thompson, Wesley K. ; Nielsen, Philip R. ; Karczewski, Konrad J. ; Saarentaus, Elmo ; Rivas, Manuel A. ; Gupta, Namrata ; Pietiläinen, Olli ; Emdin, Connor A. ; Lescai, Francesco ; Bybjerg-Grauholm, Jonas ; Flannick, Jason ; Mercader, Josep M. ; Udler, Miriam ; Laakso, Markku ; Salomaa, Veikko ; Hultman, Christina ; Ripatti, Samuli ; Hämäläinen, Eija ; Moilanen, Jukka S. ; Körkkö, Jarmo ; Kuismin, Outi ; Nordentoft, Merete ; Hougaard, David M. ; Mors, Ole ; Werge, Thomas ; Mortensen, Preben Bo ; MacArthur, Daniel ; Daly, Mark J. ; Sullivan, Patrick F. ; Locke, Adam E. ; Palotie, Aarno ; Børglum, Anders D. ; Kathiresan, Sekar ; Neale, Benjamin M.American journal of human genetics, 2018-06, Vol.102 (6), p.1204-1211 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Mutation screening and burden analysis of VPS13C in Chinese patients with early-onset Parkinson's diseaseGu, Xiaojing ; Li, Chunyu ; Chen, Yongping ; Ou, Ruwei ; Cao, Bei ; Wei, Qianqian ; Hou, Yanbing ; Zhang, Lingyu ; Song, Wei ; Zhao, Bi ; Wu, Ying ; Shang, HuifangNeurobiology of aging, 2020-10, Vol.94, p.311.e1-311.e4 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |