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Material Type: Artigo
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Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD. A. Koolen A. J Sharp; J. A Hurst; Helen V Firth; S. J. L Knight; A Goldenberg; P Saugier-Veber; R Pfundt; L. E. L. M Vissers; A Destrée; B Grisart; L Rooms; N Van der Aa; M Field; A Hackett; K Bell; M. J. M Nowaczyk; G. M. S Mancini; P. J Poddighe; C. E Schwartz; E Rossi; M De Gregori; L. L Antonacci-Fulton; M. D McLellan II; J. M Garrett; M A Wiechert; T. L Miner; S Crosby; R Ciccone; Lionel Willatt; A Rauch; Martin Zenker; S Aradhya; M. A Manning; T. M Strom; J Wagenstaller; Ana Cristina Victorino Krepischi; Angela M Vianna-Morgante; Carla Rosenberg; S. M Price; H Stewart; Charles Shaw-Smith; H. G Brunner; A. O. M Wilkie; J. A Veltman; O Zuffardi; E. E Eichler; B. B. A VriesJournal of Medical Genetics v. 45, n. 11, p. 710-720, 2008London 2008Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD. A. Koolen A. J Sharp; J. A Hurst; Helen V Firth; S. J. L Knight; A Goldenberg; P Saugier-Veber; R Pfundt; L. E. L. M Vissers; A Destrée; B Grisart; L Rooms; N Van der Aa; M Field; A Hackett; K Bell; M. J. M Nowaczyk; G. M. S Mancini; P. J Poddighe; C. E Schwartz; E Rossi; M De Gregori; L. L Antonacci-Fulton; M. D McLellan II; J. M Garrett; M A Wiechert; T. L Miner; S Crosby; R Ciccone; Lionel Willatt; A Rauch; Martin Zenker; S Aradhya; M. A Manning; T. M Strom; J Wagenstaller; Ana Cristina Victorino Krepischi-Santos; Angela Maria Vianna-Morgante; Carla Rosenberg; S. M Price; H Stewart; Charles Shaw-Smith; H. G Brunner; A. O. M Wilkie; J. A Veltman; O Zuffardi; E. E Eichler; B. B. A VriesJournal of Medical Genetics v. 45, n. 11, p. 710-720, 2008London 2008Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Clinical and molecular delineation of the 17q21.31 microdeletion syndromeKoolen, D A ; Sharp, A J ; Hurst, J A ; Firth, H V ; Knight, S J L ; Goldenberg, A ; Saugier-Veber, P ; Pfundt, R ; Vissers, L E L M ; Destrée, A ; Grisart, B ; Rooms, L ; Van der Aa, N ; Field, M ; Hackett, A ; Bell, K ; Nowaczyk, M J M ; Mancini, G M S ; Poddighe, P J ; Schwartz, C E ; Rossi, E ; De Gregori, M ; Antonacci-Fulton, L L ; McLellan, M D ; Garrett, J M ; Wiechert, M A ; Miner, T L ; Crosby, S ; Ciccone, R ; Willatt, L ; Rauch, A ; Zenker, M ; Aradhya, S ; Manning, M A ; Strom, T M ; Wagenstaller, J ; Krepischi-Santos, A C ; Vianna-Morgante, A M ; Rosenberg, C ; Price, S M ; Stewart, H ; Shaw-Smith, C ; Brunner, H G ; Wilkie, A O M ; Veltman, J A ; Zuffardi, O ; Eichler, E E ; de Vries, B B AJournal of medical genetics, 2008-11, Vol.45 (11), p.710-720 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (vol 49, pg 721, 2012)Sharma, M ; Ioannidis, JP ; Aasly, JO ; Annesi, G ; Brice, A ; Bertram, L ; Bozi, M ; Barcikowska, M ; Crosiers, D ; Clarke, CE ; Facheris, MF ; Farrer, M ; Garraux, G ; Gispert, S ; Auburger, G ; Vilarino-Guell, C ; Hadjigeorgiou, GM ; Hicks, AA ; Hattori, N ; Jeon, BS ; Jamrozik, Z ; Krygowska-Wajs, A ; Lesage, S ; Lill, CM ; Lin, JJ ; Lynch, T ; Lichtner, P ; Lang, AE ; Libioulle, C ; Murata, M ; Mok, V ; Jasinska-Myga, B ; Mellick, GD ; Morrison, KE ; Meitnger, T ; Zimprich, A ; Opala, G ; Pramstaller, PP ; Pichler, I ; Park, SS ; Quattrone, A ; Rogaeva, E ; Ross, OA ; Stefanis, L ; Stockton, JD ; Satake, W ; Silburn, PA ; Strom, TM ; Theuns, J ; Tan, EK ; Toda, T ; Tomiyama, H ; Uitti, RJ ; Van Broeckhoven, C ; Wirdefeldt, K ; Wszolek, Z ; Xiromerisiou, G ; Yomono, HS ; Yueh, KC ; Zhao, Y ; Gasser, T ; Maraganore, D ; Kruger, RJournal of medical genetics, 2013-03, Vol.50 (3), p.202 [Periódico revisado por pares]Texto completo disponível |