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Material Type: Artigo
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryEric M. Scott A Halees; Y Itan; E. G Spencer He,Y.; M. A Azab; S. B Gabriel Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; A Belkadi; B Boisson; L Abel; A. G Clark; Greater Middle East Variome Consortium; F. S Alkuraya; J. L Casanova; J. G Gleeson; S. A Rahim; S Abdel-Hadi; G Abdel-Salam; E Abdel-Salam; M Abdou; A Abhytankar; P Adimi; J Ahmad; M Akcakus; G Aksu; S. A Hajjar; S. A Juamaah; S. A Muhsen; N. A Sannaa; S. A Tameni; J Al-Aama; N Al-Allawi; R Al-Baradie; L Al-Gazali; A Al-Hashem; W Al-Herz; D Al-Jeaid; A Al-Tawari; A Alangari; A Alcais; T AlFawaz; Z Alsum; A Ammar-Khodja; S Amouian; C Arikan; O Aryani; A Aslanger; C Aydogmus; C Aytekin; M Azam; B Bansagi; M. R Barbouche; L Bastaki; T Ben-Omran; P. S Bindu; L Blancas; S Boisson-Dupuis; D Bonnet; O. B Stambouli; A Bousfiha; L Boussafara; J Boutros; J Bustamante; H Caksen; Y Camcioglu; E Catherinot; F. C Celik; M Ciancanelli; F. E Cipe; G Clark; A Cobat; S Comu; A Condie; A Condino-Neto; M Desai; W Dobyns; F Dogu; M Domaia; O Egritas; S. E Azbaoui; J. E Baghdadi; M. E Ruby; A El-Harouni Elfeky,R. A.; G Elghazali; E Faqeih; E Fenerci; C Fieschi; C Funda; I Gamal; U Gelik; F Genel; A Gezdirici; K. M Girisha; A Goldstein; P Grattan-Smith; N Gupta; J Hahn; N Hatipoglu; R Hennekam; M Houshmand; P Ichai; A Ikinciogullari; S Ismail; C Jalas; E Jouanguy; M Kabra; G Kalkan; M Kara; N Karaca; K Karaer; A Kariminejad; H Kayserili; M Keser-Emiroglu; S. S Kilic; N Kissani; C Kokron; R Koul; N Kutukculer; F Lanternier; A Mahdaviani; N Mahlaoui; L Mansour; D Mansouri; L Margari; E. M Valente; N Marzouki; A Masri; A Megahed; H Megahed; N Mekki; M Mesdaghi; M Mikati; F Mojahedi; J Mulley; S Nampoothiri; C Navarrete; T Omar; A Oraby; A Pandaluz; N Parvaneh; T Patiroglu; Z. P Koc; I Pellier; C Picard; A Puel; A Raas-Rothschild; A Rajab; D Raoult; I Reisli; N Rezaei; A Sabri; Y Sahin; L Saleem; F Salem; N. S AlSediq; O Sanal; T Sanger; H Shakankiry; L Shang; N Shehata; N Shembesh; V Shkalim; A Softah; S Sogaty; N Soliman; F Sonmez Aunaci; L Sztriha; L Taibi-Berrah; S Temtamy; H Tonekaboni; D Trauner; B Tuysuz; A Varan; G Vogt; C Walsh; G Woods; G Yesil; A Yildiran; B Yildiz; A Yuksel; M Zaki; S. Y ZhangNature Genetics Estados Unidos v. 48, n. 9, p. 1071-1076, 2016New York 2016Localização: ICB - Inst. Ciências Biomédicas (PC ICB BMI SEP 2016 )(Acessar) |
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Material Type: Artigo
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Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum L.Jisen Zhang Xingtan Zhang; Haibao Tang; Qing Zhang; Xiuting Hua; Xiaokai Ma; Fan Zhu; Tyler Jones; Xinguang Zhu; John Bowers; Ching Man Wai; Chunfang Zheng; Yan Shi; Shuai Chen; Xiuming Xu; Jingjing Yue; David R Nelson; Lixian Huang; Zhen Li; Huimin Xu; Marie-Anne Van Sluys; Gláucia Mendes SouzaNature Genetics New York v. 50, n. 11, p. 1565–1573, 2018New York 2018Acesso online |
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Material Type: Artigo
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Publisher Correction: Allele-defined genome of the autopolyploid sugarcane Saccharum spontaneum LJisen Zhang Xingtan Zhang; Haibao Tang; Qing Zhang; Xiuting Hua; Xiaokai Ma; Fan Zhu; Tyler Jones; Xinguang Zhu; John Bowers; Ching Man Wai; Chunfang Zheng; Yan Shi; Shuai Chen; Xiuming Xu; Jingjing Yue; David R Nelson; Lixian Huang; Huimin Xu; Marie-Anne Van Sluys; Gláucia Mendes SouzaNature Genetics New York v. 50, art. 1754, 2018New York 2018Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancyZhang, Michael Y ; Churpek, Jane E ; Keel, Siobán B ; Walsh, Tom ; Lee, Ming K ; Loeb, Keith R ; Gulsuner, Suleyman ; Pritchard, Colin C ; Sanchez-Bonilla, Marilyn ; Delrow, Jeffrey J ; Basom, Ryan S ; Forouhar, Melissa ; Gyurkocza, Boglarka ; Schwartz, Bradford S ; Neistadt, Barbara ; Marquez, Rafael ; Mariani, Christopher J ; Coats, Scott A ; Hofmann, Inga ; Lindsley, R Coleman ; Williams, David A ; Abkowitz, Janis L ; Horwitz, Marshall S ; King, Mary-Claire ; Godley, Lucy A ; Shimamura, AkikoNature genetics, 2015-02, Vol.47 (2), p.180-185 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pbx1 inactivation disrupts pancreas development and in Ipf1 -deficient mice promotes diabetes mellitusGu, Xueying ; Cleary, Michael L ; Selleri, Licia ; Zhang, Andrew Y ; Lee, Joon S ; Jacobs, Yakop ; Kim, Seung KNature genetics, 2002-04, Vol.30 (4), p.430-435 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A new logic for DNA engineering using recombination in Escherichia coliStewart, A. Francis ; Zhang, Youming ; Buchholz, Frank ; Muyrers, Joep P.PNature genetics, 1998-10, Vol.20 (2), p.123-128 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Germline KRAS mutations cause Noonan syndromeBöll, Silke ; Kratz, Christian P ; Schubbert, Suzanne ; Zhang, Kam Y J ; Shannon, Kevin ; West, Brian ; Zenker, Martin ; Bollag, Gideon ; Musante, Luciana ; Rauch, Anita ; Klein, Cornelia ; van der Burgt, Ineke ; Nguyen, Hoa ; Wehner, Lars-Erik ; Rowe, Sara L ; Sistermans, Erik ; Niemeyer, Charlotte M ; Kalscheuer, VeraNature genetics, 2006-03, Vol.38 (3), p.331-336 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthmaCookson, William O C M ; Zhang, Youming ; Leaves, Nicholas I ; Anderson, Gavin G ; Ponting, Chris P ; Broxholme, John ; Holt, Richard ; Edser, Pauline ; Bhattacharyya, Sumit ; Dunham, Andy ; Adcock, Ian M ; Pulleyn, Louise ; Barnes, Peter J ; Harper, John I ; Abecasis, Gonçalo ; Cardon, Lon ; White, Melanie ; Burton, John ; Matthews, Lucy ; Mott, Richard ; Ross, Mark ; Cox, Roger ; Moffatt, Miriam FNature genetics, 2003-06, Vol.34 (2), p.181-186 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Loss of NF1 results in activation of the Ras signaling pathway and leads to aberrant growth in haematopoietic cellsBollag, Gideon ; Clapp, D. Wade ; Shih, Shane ; Adler, Felix ; Zhang, You Yan ; Thompson, Patricia ; Lange, Beverly J ; Freedman, Melvin H ; McCormick, Frank ; Jacks, Tyler ; Shannon, KevinNature genetics, 1996-02, Vol.12 (2), p.144-148 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8Ranta, Susanna ; Zhang, Yonghui ; Ross, Barbara ; Lonka, Liina ; Takkunen, Elina ; Messer, Anne ; Sharp, Julie ; Wheeler, Ruth ; Kusumi, Kenro ; Mole, Sara ; Liu, Wencheng ; Soares, Marcelo Bento ; de Fatima Bonaldo, Maria ; Hirvasniemi, Aune ; Chapelle, Albert de la ; Gilliam, T. Conrad ; Lehesjoki, Anna-ElinaNature genetics, 1999-10, Vol.23 (2), p.233-236 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |