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TÍTULO: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients  Full Text
AUTORES: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; Hennekam, RCM; van Belzen, MJ; Almureikhi, M; Baban, A; Barbosa, M; Ben Omran, T; Berry, K; Bigoni, S; Boute, O; Brueton, L; van der Burgt, I; Canham, N; Chandler, KE; Chrzanowska, K; Collins, AL; de Toni, T; Dean, J; den Hollander, NS; Flore, LA; Fryer, A; Gardham, A; Graham, JM; Harrison, V; Horn, D; Jongmans, MC; Josifova, D; Kant, SG; Kapoor, S; Kingston, H; Kini, U; Kleefstra, T; Krajewska-Walasek Malgorzata; Kramer, N; Maas, SM; Maciel, P ; Mancini Grazia M.S.; Maystadt, I; McKee, S; Milunsky, JM; Nampoothiri, S; Newbury Ecob, R; Nikkel, SM; Parker, MJ; Perez Jurado, LA; Robertson, SP; Rooryck, C; Shears, D; Silengo, M; Singh, A; Smigiel, R; Soares, G; Splitt, M; Stewart, H; Sweeney, E; Tassabehji, M; Temple, IK; Tuysuz, B; van Eerde, AM; Vincent Delorme, C; Wilson, LC; Yesil, G; ...Mais
FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 11, PUBLICAÇÃO: 2013
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2  Full Text
AUTORES: Jiadi Wen; Fatima Lopes; Gabriela Soares; Sandra A Farrell; Cara Nelson; Ying Qiao; Sally Martell; Chansonette Badukke; Carlos Bessa ; Bauke Ylstra; Suzanne Lewis; Nina Isoherranen; Patricia Maciel ; Evica Rajcan Separovic;
FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1, PUBLICAÇÃO: 2013
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: Using C-elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders  Full Text
AUTORES: Carlos Bessa ; Patricia Maciel ; Ana Joao Rodrigues;
FONTE: MOLECULAR NEUROBIOLOGY, VOLUME: 48, NÚMERO: 3, PUBLICAÇÃO: 2013
INDEXADO EM: Scopus WOS CrossRef: 19
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TÍTULO: Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool  Full Text
AUTORES: Marcio S Baptista; Carlos B Duarte ; Patricia Maciel ;
FONTE: CELLULAR AND MOLECULAR LIFE SCIENCES, VOLUME: 69, NÚMERO: 16, PUBLICAÇÃO: 2012
INDEXADO EM: Scopus WOS CrossRef: 11
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TÍTULO: Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3)  Full Text
AUTORES: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Jacome Bruges Armas ; Manuela Lima ;
FONTE: CEREBELLUM, VOLUME: 11, NÚMERO: 4, PUBLICAÇÃO: 2012
INDEXADO EM: Scopus WOS CrossRef
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TÍTULO: The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma  Full Text
AUTORES: Carvalho, A; Cunha, C; Almeida, AJ; Osorio, NS ; Saraiva, M ; Teixeira Coelho, M; Pedreiro, S; Torrado, E ; Domingues, N; Gomes Alves, AG; Marques, A; Lacerda, JF; da Silva, MG; Gomes, M; Pinto, AC; Torres, F; Rendeiro, P; Tavares, P; Di Ianni, M; Medeiros, R; Heutink, P; Bracci, PM; Conde, L; Ludovico, P ; Pedrosa, J ; Maciel, P ; Pitzurra, L; Aversa, F; Marques, H ; Paiva, A; Skibola, CF; Romani, L; Castro, AG ; Rodrigues, F ; ...Mais
FONTE: GENES AND IMMUNITY, VOLUME: 13, NÚMERO: 2, PUBLICAÇÃO: 2012
INDEXADO EM: Scopus WOS CrossRef: 23
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TÍTULO: An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans
AUTORES: Andreia Teixeira Castro ; Nuno Dias ; Pedro Rodrigues; Joao Filipe Oliveira ; Nuno F Rodrigues ; Patricia Maciel ; Joao L Vilaca ;
FONTE: 5th International Conference on Practical Applications of Computational Biology and Bioinformatics in 5TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS (PACBB 2011), VOLUME: 93, PUBLICAÇÃO: 2011
INDEXADO EM: Scopus WOS CrossRef: 2
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