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TITLE: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients  Full Text
AUTHORS: 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; ...More
SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11, PUBLISHED: 2013
INDEXED IN: Scopus WOS CrossRef
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TITLE: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2  Full Text
AUTHORS: 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;
SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1, PUBLISHED: 2013
INDEXED IN: Scopus WOS CrossRef
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TITLE: Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool  Full Text
AUTHORS: Marcio S Baptista; Carlos B Duarte ; Patricia Maciel ;
SOURCE: CELLULAR AND MOLECULAR LIFE SCIENCES, VOLUME: 69, ISSUE: 16, PUBLISHED: 2012
INDEXED IN: Scopus WOS CrossRef: 11
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TITLE: Sequence Analysis of 5' Regulatory Regions of the Machado-Joseph Disease Gene (ATXN3)  Full Text
AUTHORS: 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 ;
SOURCE: CEREBELLUM, VOLUME: 11, ISSUE: 4, PUBLISHED: 2012
INDEXED IN: Scopus WOS CrossRef
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TITLE: The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma  Full Text
AUTHORS: 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 ; ...More
SOURCE: GENES AND IMMUNITY, VOLUME: 13, ISSUE: 2, PUBLISHED: 2012
INDEXED IN: Scopus WOS CrossRef: 23
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TITLE: An Image Processing Application for Quantification of Protein Aggregates in Caenorhabditis Elegans
AUTHORS: Andreia Teixeira Castro ; Nuno Dias ; Pedro Rodrigues; Joao Filipe Oliveira ; Nuno F Rodrigues ; Patricia Maciel ; Joao L Vilaca ;
SOURCE: 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, PUBLISHED: 2011
INDEXED IN: Scopus WOS CrossRef
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