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1 |
Material Type: Livro
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Environmental metal pollutants, reactive oxygen intermediaries, and genotoxicity molecular approaches to determine mechanisms of toxicityMaria E. Ariza 1966- (Maria Eugenia) Gautam Bijur 1964- (Gautam Narayan); Marshall V Williams 1948- (Marshall Vance)Boston Kluwer Academic Publishers c1999Localização: FM - Fac. Medicina (ML QV290 A75e 1999 )(Acessar) |
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Material Type: Artigo
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PERCH: A Unified Framework for Disease Gene PrioritizationFeng, Bing‐JianHuman mutation, 2017-03, Vol.38 (3), p.243-251 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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Material Type: Artigo
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Associating rare genetic variants with human diseasesZhang, QunyuanFrontiers in genetics, 2015-04, Vol.6, p.133-133 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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The impact of rare and low-frequency genetic variants in common diseaseBomba, Lorenzo ; Walter, Klaudia ; Soranzo, NicoleGenome Biology, 2017-04, Vol.18 (1), p.77-77, Article 77 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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Material Type: Artigo
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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important ContributorGillis, Elisabeth ; Kumar, Ajay A ; Luyckx, Ilse ; Preuss, Christoph ; Cannaerts, Elyssa ; van de Beek, Gerarda ; Wieschendorf, Björn ; Alaerts, Maaike ; Bolar, Nikhita ; Vandeweyer, Geert ; Meester, Josephina ; Wünnemann, Florian ; Gould, Russell A ; Zhurayev, Rustam ; Zerbino, Dmytro ; Mohamed, Salah A ; Mital, Seema ; Mertens, Luc ; Björck, Hanna M ; Franco-Cereceda, Anders ; McCallion, Andrew S ; Van Laer, Lut ; Verhagen, Judith M A ; van de Laar, Ingrid M B H ; Wessels, Marja W ; Messas, Emmanuel ; Goudot, Guillaume ; Nemcikova, Michaela ; Krebsova, Alice ; Kempers, Marlies ; Salemink, Simone ; Duijnhouwer, Toon ; Jeunemaitre, Xavier ; Albuisson, Juliette ; Eriksson, Per ; Andelfinger, Gregor ; Dietz, Harry C ; Verstraeten, Aline ; Loeys, Bart LFrontiers in physiology, 2017-06, Vol.8, p.400-400 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Optimal tests for rare variant effects in sequencing association studiesLee, Seunggeun ; Wu, Michael C ; Lin, XihongBiostatistics (Oxford, England), 2012-09, Vol.13 (4), p.762-775 [Periódico revisado por pares]England: Oxford Publishing Limited (England)Texto completo disponível |
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Material Type: Artigo
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Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese populationSu, Jianzhong ; Yuan, Jian ; Xu, Liangde ; Xing, Shilai ; Sun, Mengru ; Yao, Yinghao ; Ma, Yunlong ; Chen, Fukun ; Jiang, Longda ; Li, Kai ; Yu, Xiangyi ; Xue, Zhengbo ; Zhang, Yaru ; Fan, Dandan ; Zhang, Ji ; Liu, Hui ; Liu, Xinting ; Zhang, Guosi ; Wang, Hong ; Zhou, Meng ; Lyu, Fan ; An, Gang ; Yu, Xiaoguang ; Xue, Yuanchao ; Yang, Jian ; Qu, JiaCell reports (Cambridge), 2023-05, Vol.42 (5), p.112510-112510, Article 112510 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Exome-Wide Sequencing Study Identified Genetic Variants Associated With Sarcopenic ObesityXu, Qian ; Zhao, Qi-Gang ; Ma, Xin-Ling ; Yan, Shan-Shan ; Han, Bai-Xue ; Song, Zi-Tong ; Bu, Fan ; Li, Kuan ; Zhang, Lei ; Pei, Yu-Fang Duque, GustavoThe journals of gerontology. Series A, Biological sciences and medical sciences, 2024-04, Vol.79 (4) [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensitiesMalik, Rainer ; Beaufort, Nathalie ; Frerich, Simon ; Gesierich, Benno ; Georgakis, Marios K ; Rannikmäe, Kristiina ; Ferguson, Amy C ; Haffner, Christof ; Traylor, Matthew ; Ehrmann, Michael ; Sudlow, Cathie L M ; Dichgans, MartinBrain (London, England : 1878), 2021-10, Vol.144 (9), p.2670-2682 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A gene based combination test using GWAS summary dataZhang, Jianjun ; Liang, Xiaoyu ; Gonzales, Samantha ; Liu, Jianguo ; Gao, Xiaoyi Raymond ; Wang, XuexiaBMC bioinformatics, 2023-01, Vol.24 (1), p.2-2, Article 2 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |