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1 |
Material Type: Artigo
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Cas clinique no 1Marzouk, Basma ; Ahmed, Bouhouch ; Birouk, NazhaRevue neurologique, 2024-04, Vol.180, p.S187-S188 [Periódico revisado por pares]Elsevier Masson SASTexto completo disponível |
2 |
Material Type: Artigo
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Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological studyReiman, Eric M ; Arboleda-Velasquez, Joseph F ; Quiroz, Yakeel T ; Huentelman, Matthew J ; Beach, Thomas G ; Caselli, Richard J ; Chen, Yinghua ; Su, Yi ; Myers, Amanda J ; Hardy, John ; Paul Vonsattel, Jean ; Younkin, Steven G ; Bennett, David A ; De Jager, Philip L ; Larson, Eric B ; Crane, Paul K ; Keene, C Dirk ; Kamboh, M Ilyas ; Kofler, Julia K ; Duque, Linda ; Gilbert, John R ; Gwirtsman, Harry E ; Buxbaum, Joseph D ; Dickson, Dennis W ; Frosch, Matthew P ; Ghetti, Bernardino F ; Lunetta, Kathryn L ; Wang, Li-San ; Hyman, Bradley T ; Kukull, Walter A ; Foroud, Tatiana ; Haines, Jonathan L ; Mayeux, Richard P ; Pericak-Vance, Margaret A ; Schneider, Julie A ; Trojanowski, John Q ; Farrer, Lindsay A ; Schellenberg, Gerard D ; Beecham, Gary W ; Montine, Thomas J ; Jun, Gyungah RNature communications, 2020-02, Vol.11 (1), p.667-667, Article 667 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The CRISPR/Cas9 system produces specific and homozygous targeted gene editing in rice in one generationZhang, Hui ; Zhang, Jinshan ; Wei, Pengliang ; Zhang, Botao ; Gou, Feng ; Feng, Zhengyan ; Mao, Yanfei ; Yang, Lan ; Zhang, Heng ; Xu, Nanfei ; Zhu, Jian‐KangPlant biotechnology journal, 2014-08, Vol.12 (6), p.797-807 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
4 |
Material Type: Artigo
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Rapidly generating homozygous mutate zebrafish in F0 generation by technical integration of CRISPR/Cas9 and gynogenesisFan, Yunpeng ; Zhang, Guangjing ; Zhao, Kaiyue ; Yuan, Xiudan ; Fu, Wen ; Liu, Jinhui ; Liu, Wenbin ; Peng, Liangyue ; Xiao, YameiReproduction and breeding, 2023-06, Vol.3 (2), p.45-49 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Rapid establishment of Oct4: EGFP transgenic zebrafish homozygote through gynogenesis for monitoring the pluripotency during induction of pluripotent stem cellsXu, Wenting ; Fu, Wen ; Long, Mindi ; Yuan, Xiudan ; Zhao, Kaiyue ; Hu, Xiaoli ; Liu, Jinhui ; Liu, Wenbin ; Peng, Liangyue ; Xiao, YameiReproduction and breeding, 2022-09, Vol.2 (3), p.106-111 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Worldwide Prevalence of Familial Hypercholesterolemia: Meta-Analyses of 11 Million SubjectsBeheshti, Sabina O ; Madsen, Christian M ; Varbo, Anette ; Nordestgaard, Børge GJournal of the American College of Cardiology, 2020-05, Vol.75 (20), p.2553-2566 [Periódico revisado por pares]United StatesTexto completo disponível |
7 |
Material Type: Artigo
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Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestryKerner, Gaspard ; Ramirez-Alejo, Noe ; Seeleuthner, Yoann ; Yang, Rui ; Ogishi, Masato ; Cobat, Aurélie ; Patin, Etienne ; Quintana-Murci, Lluis ; Boisson-Dupuis, Stéphanie ; Casanova, Jean-Laurent ; Abel, LaurentProceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (21), p.10430-10434 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
8 |
Material Type: Artigo
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Redundans: an assembly pipeline for highly heterozygous genomesPryszcz, Leszek P ; Gabaldón, ToniNucleic acids research, 2016-07, Vol.44 (12), p.e113-e113 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
9 |
Material Type: Artigo
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyHildebrandt, Friedhelm ; Otto, Edgar A ; Hurd, Toby W ; Airik, Rannar ; Chaki, Moumita ; Zhou, Weibin ; Stoetzel, Corinne ; Patil, Suresh B ; Levy, Shawn ; Ghosh, Amiya K ; Murga-Zamalloa, Carlos A ; van Reeuwijk, Jeroen ; Letteboer, Stef J F ; Sang, Liyun ; Giles, Rachel H ; Liu, Qin ; Coene, Karlien L M ; Estrada-Cuzcano, Alejandro ; Collin, Rob W J ; McLaughlin, Heather M ; Held, Susanne ; Kasanuki, Jennifer M ; Ramaswami, Gokul ; Conte, Jinny ; Lopez, Irma ; Washburn, Joseph ; MacDonald, James ; Hu, Jinghua ; Yamashita, Yukiko ; Maher, Eamonn R ; Guay-Woodford, Lisa M ; Neumann, Hartmut P H ; Obermüller, Nicholas ; Koenekoop, Robert K ; Bergmann, Carsten ; Bei, Xiaoshu ; Lewis, Richard A ; Katsanis, Nicholas ; Lopes, Vanda ; Williams, David S ; Lyons, Robert H ; Dang, Chi V ; Brito, Daniela A ; Dias, Mónica Bettencourt ; Zhang, Xinmin ; Cavalcoli, James D ; Nürnberg, Gudrun ; Nürnberg, Peter ; Pierce, Eric A ; Jackson, Peter K ; Antignac, Corinne ; Saunier, Sophie ; Roepman, Ronald ; Dollfus, Helene ; Khanna, HemantNature genetics, 2010-10, Vol.42 (10), p.840-850 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
10 |
Material Type: Artigo
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Runs of homozygosity: windows into population history and trait architectureCeballos, Francisco C ; Joshi, Peter K ; Clark, David W ; Ramsay, Michèle ; Wilson, James FNature reviews. Genetics, 2018-04, Vol.19 (4), p.220-234 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |