Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNPAnke Van Dijck Anneke T. Vulto-van Silfhout; Elisa Cappuyns; Ilse M. van der Werf; Grazia M Mancini; Andreas Tzschach; Raphael Bernier; Illana Gozes; Evan E Eichler; Corrado Romano; Fernando KokBiological psychiatry v. 85, n. 4, p. 287-297, 2019New York 2019Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Artigo
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Analysis of copy number variations among diverse cattle breedsGeorge E Liu Hou,Yali; Bin Zhu; Maria Francesca Cardone; Lu Jiang; Angelo Cellamare; Apratim Mitra; Leeson J Alexander; Luiz Lehmann Coutinho; Maria Elena Dell'Aquila; Lou C Gasbarre; Gianni Lacalandra; Robert W LI; Lakshmi K Matukumalli; Dan Nonneman; Luciana C. de A Regitno; Tim P. L Smith; Jiuzhou Song; Tad S Sonstegard; Curt P Van Tassell; Mario Ventura; Evan E Eichler; Tara G McDaneld; John W KeeleGenome Research Woodbury v. 20, n. 5, p. 693-703, 2010WoodBury 2010Acesso online |
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Material Type: Artigo
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Analysis of copy number variations among diverse cattle breedsGeorge E Liu Hou,Yali; Bin Zhu; Maria Francesca Cardone; Lu Jiang; Angelo Cellamare; Apratim Mitra; Leeson J Alexander; Luiz Lehmann Coutinho; Maria Elena Dell'Aquila; Lou C Gasbarre; Gianni Lacalandra; Robert W LI; Lakshmi K Matukumalli; Dan Nonneman; Luciana C. de A Regitno; Tim P. L Smith; Jiuzhou Song; Tad S Sonstegard; Curt P Van Tassell; Mario Ventura; Evan E Eichler; Tara G McDaneld; John W KeeleGenome Research Woodbury v. 20, n. 5, p. 693-703, 2010WoodBury 2010Acesso online |
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Material Type: Artigo
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Genetic Variation, Comparative Genomics, and the Diagnosis of DiseaseEichler, Evan EThe New England journal of medicine, 2019-07, Vol.381 (1), p.64-74 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
5 |
Material Type: Artigo
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Long-read human genome sequencing and its applicationsLogsdon, Glennis A ; Vollger, Mitchell R ; Eichler, Evan ENature reviews. Genetics, 2020-10, Vol.21 (10), p.597-614 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
6 |
Material Type: Artigo
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Limitations of next-generation genome sequence assemblyEichler, Evan E ; Alkan, Can ; Sajjadian, SabaNature methods, 2011-01, Vol.8 (1), p.61-65 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
7 |
Material Type: Artigo
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Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing dataChin, Chen-Shan ; Alexander, David H ; Marks, Patrick ; Klammer, Aaron A ; Drake, James ; Heiner, Cheryl ; Clum, Alicia ; Copeland, Alex ; Huddleston, John ; Eichler, Evan E ; Turner, Stephen W ; Korlach, JonasNature methods, 2013-06, Vol.10 (6), p.563-569 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome structural variation discovery and genotypingEichler, Evan E ; Alkan, Can ; Coe, Bradley PNature reviews. Genetics, 2011-05, Vol.12 (5), p.363-376 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
9 |
Material Type: Artigo
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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long readsNurk, Sergey ; Walenz, Brian P ; Rhie, Arang ; Vollger, Mitchell R ; Logsdon, Glennis A ; Grothe, Robert ; Miga, Karen H ; Eichler, Evan E ; Phillippy, Adam M ; Koren, SergeyGenome research, 2020-09, Vol.30 (9), p.1291-1305 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
10 |
Material Type: Artigo
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Properties and rates of germline mutations in humansCampbell, Catarina D ; Eichler, Evan ETrends in genetics, 2013-10, Vol.29 (10), p.575-584 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |