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Multi-system neurological disease is common in patients with OPA1 mutationsYu-Wai-Man, P. ; Griffiths, P.G. ; Gorman, G.S. ; Lourenco, C.M. ; Wright, A.F. ; Auer-Grumbach, M. ; Toscano, A. ; Musumeci, O. ; Valentino, M.L. ; Caporali, L. ; Lamperti, C. ; Tallaksen, C.M. ; Duffey, P. ; Miller, J. ; Whittaker, R.G. ; Baker, M.R. ; Jackson, M.J. ; Clarke, M.P. ; Dhillon, B. ; Czermin, B. ; Stewart, J.D. ; Hudson, G. ; Reynier, P. ; Bonneau, D. ; Marques, W. ; Lenaers, G. ; McFarland, R. ; Taylor, R.W. ; Turnbull, D.M. ; Votruba, M. ; Zeviani, M. ; Carelli, V. ; Bindoff, L.A. ; Horvath, R. ; Amati-Bonneau, P. ; Chinnery, P.F.Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Expanding the genotypic spectrum of Perrault syndromeDemain, L.A.M. ; Urquhart, J.E. ; O'Sullivan, J. ; Williams, S.G. ; Bhaskar, S.S. ; Jenkinson, E.M. ; Lourenco, C.M. ; Heiberg, A. ; Pearce, S.H. ; Shalev, S.A. ; Yue, W.W. ; Mackinnon, S. ; Munro, K.J. ; Newbury‐Ecob, R. ; Becker, K. ; Kim, M.J. ; O' Keefe, R.T. ; Newman, W.G.Clinical genetics, 2017-02, Vol.91 (2), p.302-312 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Changes in Tinnitus Experiences During the COVID-19 PandemicBeukes, Eldré W ; Baguley, David M ; Jacquemin, Laure ; Lourenco, Matheus P C G ; Allen, Peter M ; Onozuka, Joy ; Stockdale, David ; Kaldo, Viktor ; Andersson, Gerhard ; Manchaiah, VinayaFrontiers in public health, 2020-11, Vol.8, p.592878-592878 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesVerloes, Alain ; Di Donato, Nataliya ; Masliah-Planchon, Julien ; Jongmans, Marjolijn ; Abdul-Raman, Omar A ; Albrecht, Beate ; Allanson, Judith ; Brunner, Han ; Bertola, Debora ; Chassaing, Nicolas ; David, Albert ; Devriendt, Koen ; Eftekhari, Pirayeh ; Drouin-Garraud, Valérie ; Faravelli, Francesca ; Faivre, Laurence ; Giuliano, Fabienne ; Guion Almeida, Leina ; Juncos, Jorge ; Kempers, Marlies ; Eker, Hatice Koçak ; Lacombe, Didier ; Lin, Angela ; Mancini, Grazia ; Melis, Daniela ; Lourenço, Charles Marques ; Siu, Victoria Mok ; Morin, Gilles ; Nezarati, Marjan ; Nowaczyk, Malgorzata J M ; Ramer, Jeanette C ; Osimani, Sara ; Philip, Nicole ; Pierpont, Mary Ella ; Procaccio, Vincent ; Roseli, Zeichi-Seide ; Rossi, Massimiliano ; Rusu, Cristina ; Sznajer, Yves ; Templin, Ludivine ; Uliana, Vera ; Klaus, Mirjam ; Van Bon, Bregje ; Van Ravenswaaij, Conny ; Wainer, Bruce ; Fry, Andrew E ; Rump, Andreas ; Hoischen, Alexander ; Drunat, Séverine ; Rivière, Jean-Baptiste ; Dobyns, William B ; Pilz, Daniela TEuropean journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.292-301 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Effects of the combined artesunate and mefloquine antimalarial drugs on rat embryosBoareto, A.C. ; Müller, J.C. ; Lourenço, E.L.B. ; Lombardi, N. ; Lourenço, A.C. ; Rabitto, I. ; de Morais, R.N. ; Rios, F.S. ; Dalsenter, P.R.Human & Experimental Toxicology, 2013-09, Vol.32 (9), p.930-941 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
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Material Type: Artigo
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Detection of copy number variations in epilepsy using exome dataTsuchida, N. ; Nakashima, M. ; Kato, M. ; Heyman, E. ; Inui, T. ; Haginoya, K. ; Watanabe, S. ; Chiyonobu, T. ; Morimoto, M. ; Ohta, M. ; Kumakura, A. ; Kubota, M. ; Kumagai, Y. ; Hamano, S.‐I. ; Lourenco, C.M. ; Yahaya, N.A. ; Ch'ng, G.‐S. ; Ngu, L.‐H. ; Fattal‐Valevski, A. ; Weisz Hubshman, M. ; Orenstein, N. ; Marom, D. ; Cohen, L. ; Goldberg‐Stern, H. ; Uchiyama, Y. ; Imagawa, E. ; Mizuguchi, T. ; Takata, A. ; Miyake, N. ; Nakajima, H. ; Saitsu, H. ; Miyatake, S. ; Matsumoto, N.Clinical genetics, 2018-03, Vol.93 (3), p.577-587 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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The risk of residual or recurring adenoma after piecemeal endoscopic mucosal resection of large non-pedunculated colorectal polyps is predictableAlexandrino, Gonçalo ; Figueiredo, Maria L ; Domingues, Tiago D ; Lourenço, Luís C ; Carvalho, Rita ; Martins, AlexandraEuropean journal of gastroenterology & hepatology, 2020-06, Vol.32 (6), p.713-717 [Periódico revisado por pares]England: Copyright Wolters Kluwer Health, Inc. All rights reservedTexto completo disponível |
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Material Type: Artigo
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Suppression of epithelial apoptosis and delayed mammary gland involution in mice with a conditional knockout of Stat3Chapman, R S ; Lourenco, P C ; Tonner, E ; Flint, D J ; Selbert, S ; Takeda, K ; Akira, S ; Clarke, A R ; Watson, C JGenes & development, 1999-10, Vol.13 (19), p.2604-2616 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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CB1 expression is attenuated in Fallopian tube and decidua of women with ectopic pregnancyHorne, Andrew W ; Phillips, 3rd, John A ; Kane, Nicole ; Lourenco, Paula C ; McDonald, Sarah E ; Williams, Alistair R W ; Simon, Carlos ; Dey, Sudhansu K ; Critchley, Hilary O D Aziz, Syed A.PloS one, 2008-12, Vol.3 (12), p.e3969-e3969 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Imaging the mammary gland and mammary tumours in 3D: optical tissue clearing and immunofluorescence methodsLloyd-Lewis, Bethan ; Davis, Felicity M ; Harris, Olivia B ; Hitchcock, Jessica R ; Lourenco, Filipe C ; Pasche, Mathias ; Watson, Christine JBreast cancer research : BCR, 2016-12, Vol.18 (1), p.127-127, Article 127 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |