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1 |
Material Type: Livro
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Primate CommunitiesFleagle J. G Fleagle; John G Fleagle; Charles Helmar Janson; Kaye E Reed Charles Janson Kaye Reed; Charles Janson; Kaye ReedCambridge Cambridge University Press 1999Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Livro
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Handbook of forensic anthropology and archaeologyS Blau (Soren); Douglas H UbelakerWalnut Creek, Calif. Left Coast Press c2009Localização: MAE - Museu Arqueologia e Etnologia (R GN69.8 H236 )(Acessar) |
3 |
Material Type: Artigo
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Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population CohortsKingdom, Rebecca ; Wright, Caroline FFrontiers in genetics, 2022-07, Vol.13, p.920390-920390 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataWright, Caroline F, Dr ; Fitzgerald, Tomas W, MS ; Jones, Wendy D, MBBS ; Clayton, Stephen, MRes ; McRae, Jeremy F, PhD ; van Kogelenberg, Margriet, PhD ; King, Daniel A, MD ; Ambridge, Kirsty, BSc ; Barrett, Daniel M, BSc ; Bayzetinova, Tanya, BSc ; Bevan, A Paul, PhD ; Bragin, Eugene, MSc ; Chatzimichali, Eleni A, PhD ; Gribble, Susan, PhD ; Jones, Philip, MSc ; Krishnappa, Netravathi, MSc ; Mason, Laura E, BSc ; Miller, Ray, PhD ; Morley, Katherine I, PhD ; Parthiban, Vijaya, PhD ; Prigmore, Elena, PhD ; Rajan, Diana, MSc ; Sifrim, Alejandro, PhD ; Swaminathan, G Jawahar, PhD ; Tivey, Adrian R, MSc ; Middleton, Anna, PhD ; Parker, Michael, Prof ; Carter, Nigel P, PhD ; Barrett, Jeffrey C, PhD ; Hurles, Matthew E, PhD ; FitzPatrick, David R, Prof ; Firth, Helen V, DMThe Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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De novo mutations in regulatory elements in neurodevelopmental disordersShort, Patrick J ; McRae, Jeremy F ; Gallone, Giuseppe ; Sifrim, Alejandro ; Won, Hyejung ; Geschwind, Daniel H ; Wright, Caroline F ; Firth, Helen V ; FitzPatrick, David R ; Barrett, Jeffrey C ; Hurles, Matthew ENature (London), 2018-03, Vol.555 (7698), p.611-616 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Common genetic variants contribute to risk of rare severe neurodevelopmental disordersNiemi, Mari E K ; Martin, Hilary C ; Rice, Daniel L ; Gallone, Giuseppe ; Gordon, Scott ; Kelemen, Martin ; McAloney, Kerrie ; McRae, Jeremy ; Radford, Elizabeth J ; Yu, Sui ; Gecz, Jozef ; Martin, Nicholas G ; Wright, Caroline F ; Fitzpatrick, David R ; Firth, Helen V ; Hurles, Matthew E ; Barrett, Jeffrey CNature (London), 2018-10, Vol.562 (7726), p.268-271 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population SettingWright, Caroline F. ; West, Ben ; Tuke, Marcus ; Jones, Samuel E. ; Patel, Kashyap ; Laver, Thomas W. ; Beaumont, Robin N. ; Tyrrell, Jessica ; Wood, Andrew R. ; Frayling, Timothy M. ; Hattersley, Andrew T. ; Weedon, Michael N.American journal of human genetics, 2019-02, Vol.104 (2), p.275-286 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
8 |
Material Type: Artigo
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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing researchMiddleton, Anna ; Morley, Katherine I ; Bragin, Eugene ; Firth, Helen V ; Hurles, Matthew E ; Wright, Caroline F ; Parker, MichaelEuropean journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.21-29 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
9 |
Material Type: Artigo
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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variationBragin, Eugene ; Chatzimichali, Eleni A ; Wright, Caroline F ; Hurles, Matthew E ; Firth, Helen V ; Bevan, A Paul ; Swaminathan, G JawaharNucleic acids research, 2014-01, Vol.42 (Database issue), p.D993-D1000 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPThormann, Anja ; Halachev, Mihail ; McLaren, William ; Moore, David J ; Svinti, Victoria ; Campbell, Archie ; Kerr, Shona M ; Tischkowitz, Marc ; Hunt, Sarah E ; Dunlop, Malcolm G ; Hurles, Matthew E ; Wright, Caroline F ; Firth, Helen V ; Cunningham, Fiona ; FitzPatrick, David RNature communications, 2019-05, Vol.10 (1), p.2373-2373, Article 2373 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |