Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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41 |
Material Type: Artigo
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomevan Bon, B W M ; Mefford, H C ; Menten, B ; Koolen, D A ; Sharp, A J ; Nillesen, W M ; Innis, J W ; de Ravel, T J L ; Mercer, C L ; Fichera, M ; Stewart, H ; Connell, L E ; Õunap, K ; Lachlan, K ; Castle, B ; Van der Aa, N ; van Ravenswaaij, C ; Nobrega, M A ; Serra-Juhé, C ; Simonic, I ; de Leeuw, N ; Pfundt, R ; Bongers, E M ; Baker, C ; Finnemore, P ; Huang, S ; Maloney, V K ; Crolla, J A ; van Kalmthout, M ; Elia, M ; Vandeweyer, G ; Fryns, J P ; Janssens, S ; Foulds, N ; Reitano, S ; Smith, K ; Parkel, S ; Loeys, B ; Woods, C G ; Oostra, A ; Speleman, F ; Pereira, A C ; Kurg, A ; Willatt, L ; Knight, S J L ; Vermeesch, J R ; Romano, C ; Barber, J C ; Mortier, G ; Pérez-Jurado, L A ; Kooy, F ; Brunner, H G ; Eichler, E E ; Kleefstra, T ; de Vries, B B AJournal of medical genetics, 2009-08, Vol.46 (8), p.511-523 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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42 |
Material Type: Artigo
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Systematic assessment of copy number variant detection via genome-wide SNP genotypingCooper, Gregory M ; Zerr, Troy ; Kidd, Jeffrey M ; Eichler, Evan E ; Nickerson, Deborah ANature genetics, 2008-10, Vol.40 (10), p.1199-1203 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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43 |
Material Type: Artigo
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Asthma severity and medical resource utilisationAntonicelli, L ; Bucca, C ; Neri, M ; De Benedetto, F ; Sabbatani, P ; Bonifazi, F ; Eichler, H-G ; Zhang, Q ; Yin, D.DThe European respiratory journal, 2004-05, Vol.23 (5), p.723-729 [Periódico revisado por pares]Leeds: Eur Respiratory SocTexto completo disponível |
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44 |
Material Type: Artigo
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Mutational and selective effects on copy-number variants in the human genomeCOOPER, Gregory M ; NICKERSON, Deborah A ; EICHLER, Evan ENature genetics, 2007-07, Vol.39 (7), p.S22-S29 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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45 |
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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46 |
Material Type: Artigo
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesMiller, David T. ; Adam, Margaret P. ; Aradhya, Swaroop ; Biesecker, Leslie G. ; Brothman, Arthur R. ; Carter, Nigel P. ; Church, Deanna M. ; Crolla, John A. ; Eichler, Evan E. ; Epstein, Charles J. ; Faucett, W. Andrew ; Feuk, Lars ; Friedman, Jan M. ; Hamosh, Ada ; Jackson, Laird ; Kaminsky, Erin B. ; Kok, Klaas ; Krantz, Ian D. ; Kuhn, Robert M. ; Lee, Charles ; Ostell, James M. ; Rosenberg, Carla ; Scherer, Stephen W. ; Spinner, Nancy B. ; Stavropoulos, Dimitri J. ; Tepperberg, James H. ; Thorland, Erik C. ; Vermeesch, Joris R. ; Waggoner, Darrel J. ; Watson, Michael S. ; Martin, Christa Lese ; Ledbetter, David H.American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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47 |
Material Type: Artigo
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Challenges and standards in integrating surveys of structural variationSCHERER, Stephen W ; LEE, Charles ; BIRNEY, Ewan ; ALTSHULER, David M ; EICHLER, Evan E ; CARTER, Nigel P ; HURLES, Matthew E ; FEUK, LarsNature genetics, 2007-06, Vol.39 (7), p.S7-S15 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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48 |
Material Type: Artigo
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Rare copy number variants are an important cause of epileptic encephalopathiesMefford, Heather C. ; Yendle, Simone C. ; Hsu, Cynthia ; Cook, Joseph ; Geraghty, Eileen ; McMahon, Jacinta M. ; Eeg-Olofsson, Orvar ; Sadleir, Lynette G. ; Gill, Deepak ; Ben-Zeev, Bruria ; Lerman-Sagie, Tally ; Mackay, Mark ; Freeman, Jeremy L. ; Andermann, Eva ; Pelakanos, James T. ; Andrews, Ian ; Wallace, Geoffrey ; Eichler, Evan E. ; Berkovic, Samuel F. ; Scheffer, Ingrid E.Annals of neurology, 2011-12, Vol.70 (6), p.974-985 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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49 |
Material Type: Artigo
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Emerging Epidemic of Hepatitis C Virus Infections Among Young Nonurban Persons Who Inject Drugs in the United States, 2006–2012Suryaprasad, Anil G. ; White, Jianglan Z. ; Xu, Fujie ; Eichler, Beth-Ann ; Hamilton, Janet ; Patel, Ami ; Hamdounia, Shadia Bel ; Church, Daniel R. ; Barton, Kerri ; Fisher, Chardé ; Macomber, Kathryn ; Stanley, Marisa ; Guilfoyle, Sheila M. ; Sweet, Kristin ; Liu, Stephen ; Iqbal, Kashif ; Tohme, Rania ; Sharapov, Umid ; Kupronis, Benjamin A. ; Ward, John W. ; Holmberg, Scott D.Clinical infectious diseases, 2014-11, Vol.59 (10), p.1411-1419 [Periódico revisado por pares]Oxford: OXFORD UNIVERSITY PRESSTexto completo disponível |
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50 |
Material Type: Artigo
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Diagnostic Value of Systematic Biopsy Methods in the Investigation of Prostate Cancer: A Systematic ReviewEichler, Klaus ; Hempel, Susanne ; Wilby, Jennifer ; Myers, Lindsey ; Bachmann, Lucas M. ; Kleijnen, JosThe Journal of urology, 2006-05, Vol.175 (5), p.1605-1612 [Periódico revisado por pares]Hagerstown, MD: Elsevier IncTexto completo disponível |