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Material Type: Artigo
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingCláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela Maria Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009Oxford 2009Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingCláudia M. B. Carvalho Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y. Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela M Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski 1957-Human Molecular Genetics v. 18, n. 12, p. 2188-2203, 2009Oxford 2009Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Calpain and STriatal-Enriched protein tyrosine Phosphatase (STEP) activation contribute to extrasynaptic NMDA receptor localization in a Huntington's disease mouse modelGLADDING, Clare M ; SEPERS, Marja D ; JIAN XU ; ZHANG, Lily Y. J ; MILNERWOOD, Austen J ; LOMBROSO, Paul J ; RAYMOND, Lynn AHuman molecular genetics, 2012-09, Vol.21 (17), p.3739-3752 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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4 |
Material Type: Artigo
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Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in micePuckelwartz, Megan J. ; Kessler, Eric ; Zhang, Yuan ; Hodzic, Didier ; Randles, K. Natalie ; Morris, Glenn ; Earley, Judy U. ; Hadhazy, Michele ; Holaska, James M. ; Mewborn, Stephanie K. ; Pytel, Peter ; McNally, Elizabeth M.Human molecular genetics, 2009-02, Vol.18 (4), p.607-620 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Leucine-rich repeat kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's diseaseVenderova, Katerina ; Kabbach, Ghassan ; Abdel-Messih, Elizabeth ; Zhang, Yi ; Parks, Robin J. ; Imai, Yuzuru ; Gehrke, Stephan ; Ngsee, Johnny ; LaVoie, Matthew J. ; Slack, Ruth S. ; Rao, Yong ; Zhang, Zhuohua ; Lu, Bingwei ; Haque, M. Emdadul ; Park, David S.Human molecular genetics, 2009-11, Vol.18 (22), p.4390-4404 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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6 |
Material Type: Artigo
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The microtubule-associated protein Tau suppresses the axonal distribution of PDF neuropeptide and mitochondria in circadian clock neuronsZhang, Melanie Y ; Lear, Bridget C ; Allada, RaviHuman molecular genetics, 2022-03, Vol.31 (7), p.1141-1150 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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7 |
Material Type: Artigo
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Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1Yan, Jincheng ; Chen, Shi ; Zhang, Yingze ; Li, Xiaohong ; Li, Yan ; Wu, Xiaohua ; Yuan, Jin ; Robling, Alexander G. ; Karpur, Reuben ; Chan, Rebecca J. ; Yang, Feng-ChunHuman molecular genetics, 2008-04, Vol.17 (7), p.936-948 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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8 |
Material Type: Artigo
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PCR detection of the TaqA RFLP at the DRD2 locusGrandy, D.K. ; Zhang, Y. ; Civelli, O.Human molecular genetics, 1993-12, Vol.2 (12), p.2197-2197 [Periódico revisado por pares]Oxford: Oxford University PressSem texto completo |
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9 |
Material Type: Artigo
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A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese populationShi, Yi ; Gong, Bo ; Chen, Lijia ; Zuo, Xianbo ; Liu, Xiaoqi ; Tam, Pancy O S ; Zhou, Xiangtian ; Zhao, Peiquan ; Lu, Fang ; Qu, Jia ; Sun, Liangdan ; Zhao, Fuxin ; Chen, Haoyu ; Zhang, Yiping ; Zhang, Dingding ; Lin, Ying ; Lin, He ; Ma, Shi ; Cheng, Jing ; Yang, Jiyun ; Huang, Lulin ; Zhang, Mingzhi ; Zhang, Xuejun ; Pang, Chi Pui ; Yang, ZhenglinHuman molecular genetics, 2013-06, Vol.22 (11), p.2325-2333 [Periódico revisado por pares]EnglandTexto completo disponível |
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10 |
Material Type: Artigo
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Linkage of the MHC to Familial Multiple Sclerosis Suggests Genetic HeterogeneityHaines, Jonathan L. ; Terwedow, Henry A. ; Burgess, Katie ; Pericak-Vance, Margaret A. ; Rimmler, Jackie B. ; Martin, Eden R. ; Oksenberg, Jorge R. ; Lincoln, Robin ; Zhang, David Y. ; Banatao, Diosdado R. ; Gatto, Nicole ; Goodkin, Donald E. ; Hauser, Stephen L.Human molecular genetics, 1998-08, Vol.7 (8), p.1229-1234 [Periódico revisado por pares]Oxford University PressTexto completo disponível |