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1 |
Material Type: Artigo
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Models for the modern power gridCardieri, Paulo, 1964- Universidade Estadual de Campinas (Unicamp); Universidade Estadual De Campinashttps://repositorio.unicamp.br/acervo/detalhe/11912042014Acesso online |
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2 |
Material Type: Artigo
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Clinical and molecular characterization of individuals with 18p deletion: A genotype-phenotype correlationWester, Ulrika ; Bondeson, Marie-Louise ; Edeby, Christina ; Annerén, GöranAmerican journal of medical genetics. Part A, 2006-06, Vol.140A (11), p.1164-1171 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patientsDe Gregori, M ; Ciccone, R ; Magini, P ; Pramparo, T ; Gimelli, S ; Messa, J ; Novara, F ; Vetro, A ; Rossi, E ; Maraschio, P ; Bonaglia, M C ; Anichini, C ; Ferrero, G B ; Silengo, M ; Fazzi, E ; Zatterale, A ; Fischetto, R ; Previderé, C ; Belli, S ; Turci, A ; Calabrese, G ; Bernardi, F ; Meneghelli, E ; Riegel, M ; Rocchi, M ; Guerneri, S ; Lalatta, F ; Zelante, L ; Romano, C ; Fichera, M ; Mattina, T ; Arrigo, G ; Zollino, M ; Giglio, S ; Lonardo, F ; Bonfante, A ; Ferlini, A ; Cifuentes, F ; Van Esch, H ; Backx, L ; Schinzel, A ; Vermeesch, J R ; Zuffardi, OJournal of medical genetics, 2007-12, Vol.44 (12), p.750-762 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Shaffer, Lisa G ; Ballif, Blake C ; Hornor, Sara A ; Jenkins, Elizabeth ; Madan-Khetarpal, Suneeta ; Surti, Urvashi ; Jackson, Kelly E ; Asamoah, Alexander ; Brock, Pamela L ; Gowans, Gordon C ; Conway, Robert L ; Graham, John M ; Medne, Livija ; Zackai, Elaine H ; Shaikh, Tamim H ; Geoghegan, Joel ; Selzer, Rebecca R ; Eis, Peggy S ; Bejjani, Bassem ANature genetics, 2007-09, Vol.39 (9), p.1071-1073 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypesOu, Zhishuo ; Berg, Jonathan S. ; Yonath, Hagith ; Enciso, Victoria B. ; Miller, David T. ; Picker, Jonathan ; Lenzi, Tiffanee ; Keegan, Catherine E. ; Sutton, Vernon R. ; Belmont, John ; Chinault, A. Craig ; Lupski, James R. ; Cheung, Sau Wai ; Roeder, Elizabeth ; Patel, AnkitaGenetics in medicine, 2008-04, Vol.10 (4), p.267-277 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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6 |
Material Type: Artigo
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Renal tumors in the Birt-Hogg-Dubé syndromePAVLOVICH, Christian P ; WALTHER, Mcclellan M ; EYLER, Robin A ; HEWITT, Stephen M ; ZBAR, Berton ; LINEHAN, W. Marston ; MERINO, Maria JThe American journal of surgical pathology, 2002-12, Vol.26 (12), p.1542-1552 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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7 |
Material Type: Artigo
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Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse modelsNussenzweig, André ; Difilippantonio, Simone ; Celeste, Arkady ; Fernandez-Capetillo, Oscar ; Chen, Hua-Tang ; Martin, Bernardo Reina San ; Laethem, Francois Van ; Yang, Yong-Ping ; Petukhova, Galina V ; Eckhaus, Michael ; Feigenbaum, Lionel ; Manova, Katia ; Kruhlak, Michael ; Camerini-Otero, R. Daniel ; Sharan, Shyam ; Nussenzweig, MichelNature cell biology, 2005-07, Vol.7 (7), p.675-685 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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Autoimmune oophoritis as a mechanism of follicular dysfunction in women with 46,XX spontaneous premature ovarian failureBakalov, Vladimir K. ; Anasti, James N. ; Calis, Karim A. ; Vanderhoof, Vien H. ; Premkumar, Ahalya ; Chen, Shu ; Furmaniak, Jadwiga ; Smith, B. Rees ; Merino, Maria J. ; Nelson, Lawrence M.Fertility and sterility, 2005-10, Vol.84 (4), p.958-965 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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9 |
Material Type: Artigo
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The 11q terminal deletion disorder: A prospective study of 110 casesGrossfeld, Paul D. ; Mattina, Teresa ; Lai, Zona ; Favier, Remi ; Jones, Ken Lyons ; Cotter, Finbarr ; Jones, ChristopherAmerican journal of medical genetics. Part A, 2004-08, Vol.129A (1), p.51-61 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1Rajcan-Separovic, E ; Harvard, C ; Liu, X ; McGillivray, B ; Hall, J G ; Qiao, Y ; Hurlburt, J ; Hildebrand, J ; Mickelson, E C R ; Holden, J J A ; Lewis, M E SJournal of medical genetics, 2007-04, Vol.44 (4), p.269-276 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |