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Material Type: Artigo
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Overcoming the senescence‐associated secretory phenotype (SASP): a complex mechanism of resistance in the treatment of cancerChambers, Cecilia R. ; Ritchie, Shona ; Pereira, Brooke A. ; Timpson, PaulMolecular oncology, 2021-12, Vol.15 (12), p.3242-3255 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Pejaver, Vikas ; Urresti, Jorge ; Lugo-Martinez, Jose ; Pagel, Kymberleigh A ; Lin, Guan Ning ; Nam, Hyun-Jun ; Mort, Matthew ; Cooper, David N ; Sebat, Jonathan ; Iakoucheva, Lilia M ; Mooney, Sean D ; Radivojac, PredragNature communications, 2020-11, Vol.11 (1), p.5918-13, Article 5918 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Atopic dermatitis endotypes and implications for targeted therapeuticsCzarnowicki, Tali ; He, Helen ; Krueger, James G. ; Guttman-Yassky, EmmaJournal of allergy and clinical immunology, 2019-01, Vol.143 (1), p.1-11 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing dataSun, Duanchen ; Guan, Xiangnan ; Moran, Amy E ; Wu, Ling-Yun ; Qian, David Z ; Schedin, Pepper ; Dai, Mu-Shui ; Danilov, Alexey V ; Alumkal, Joshi J ; Adey, Andrew C ; Spellman, Paul T ; Xia, ZhengNature biotechnology, 2022-04, Vol.40 (4), p.527-538 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotypeNuovo, Sara ; Micalizzi, Alessia ; D'Arrigo, Stefano ; Ginevrino, Monia ; Biagini, Tommaso ; Mazza, Tommaso ; Valente, Enza MariaEuropean journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.928-929 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methodsNotaro, Marco ; Schubach, Max ; Robinson, Peter N ; Valentini, GiorgioBMC bioinformatics, 2017-10, Vol.18 (1), p.449-18, Article 449 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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The evolution, evolvability and engineering of gene regulatory DNAVaishnav, Eeshit Dhaval ; de Boer, Carl G ; Molinet, Jennifer ; Yassour, Moran ; Fan, Lin ; Adiconis, Xian ; Thompson, Dawn A ; Levin, Joshua Z ; Cubillos, Francisco A ; Regev, AvivNature (London), 2022-03, Vol.603 (7901), p.455-463 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of ImmunityBousfiha, Aziz ; Moundir, Abderrahmane ; Tangye, Stuart G. ; Picard, Capucine ; Jeddane, Leïla ; Al-Herz, Waleed ; Rundles, Charlotte C. ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Oksenhendler, Eric ; Puel, Anne ; Puck, Jennifer ; Seppänen, Mikko R. J. ; Somech, Raz ; Su, Helen C. ; Sullivan, Kathleen E. ; Torgerson, Troy R. ; Meyts, IsabelleJournal of clinical immunology, 2022-10, Vol.42 (7), p.1508-1520 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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c.586T>C mutation on the ABOA1.02 allele responsible for Ael phenotypeShen, Yuqing ; Yang, Xiaojun ; Lu, Chunjing ; Chen, Fawen ; Ye, Xianren ; Su, NaizhuTransfusion (Philadelphia, Pa.), 2022-06, Vol.62 (6), p.E27-E29 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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High-throughput discovery of novel developmental phenotypesDickinson, Mary E ; Flenniken, Ann M ; Ji, Xiao ; Teboul, Lydia ; Wong, Michael D ; White, Jacqueline K ; Meehan, Terrence F ; Weninger, Wolfgang J ; Westerberg, Henrik ; Adissu, Hibret ; Baker, Candice N ; Bower, Lynette ; Brown, James M ; Caddle, L Brianna ; Chiani, Francesco ; Clary, Dave ; Cleak, James ; Daly, Mark J ; Denegre, James M ; Doe, Brendan ; Dolan, Mary E ; Edie, Sarah M ; Fuchs, Helmut ; Gailus-Durner, Valerie ; Galli, Antonella ; Gambadoro, Alessia ; Gallegos, Juan ; Guo, Shiying ; Horner, Neil R ; Hsu, Chih-Wei ; Johnson, Sara J ; Kalaga, Sowmya ; Keith, Lance C ; Lanoue, Louise ; Lawson, Thomas N ; Lek, Monkol ; Mark, Manuel ; Marschall, Susan ; Mason, Jeremy ; McElwee, Melissa L ; Newbigging, Susan ; Nutter, Lauryl M J ; Peterson, Kevin A ; Ramirez-Solis, Ramiro ; Rowland, Douglas J ; Ryder, Edward ; Samocha, Kaitlin E ; Seavitt, John R ; Selloum, Mohammed ; Szoke-Kovacs, Zsombor ; Tamura, Masaru ; Trainor, Amanda G ; Tudose, Ilinca ; Wakana, Shigeharu ; Warren, Jonathan ; Wendling, Olivia ; West, David B ; Wong, Leeyean ; Yoshiki, Atsushi ; MacArthur, Daniel G ; Tocchini-Valentini, Glauco P ; Gao, Xiang ; Flicek, Paul ; Bradley, Allan ; Skarnes, William C ; Justice, Monica J ; Parkinson, Helen E ; Moore, Mark ; Wells, Sara ; Braun, Robert E ; Svenson, Karen L ; de Angelis, Martin Hrabe ; Herault, Yann ; Mohun, Tim ; Mallon, Ann-Marie ; Henkelman, R Mark ; Brown, Steve D M ; Adams, David J ; Lloyd, K C Kent ; McKerlie, Colin ; Beaudet, Arthur L ; Bućan, Maja ; Murray, Stephen ANature (London), 2016-09, Vol.537 (7621), p.508-514 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |