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TITLE: Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes  Full Text
AUTHORS: Temudo, T; Santos, M; Ramos, E ; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G ; Levy, A; Barbot, C ; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A ; Epplen, JT; Sequeiros, J ; Maciel, P ; ...More
PUBLISHED: 2011, SOURCE: BRAIN & DEVELOPMENT, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
12
TITLE: The APOE epsilon 2 Allele Increases the Risk of Earlier Age at Onset in Machado-Joseph Disease
AUTHORS: Conceicao Bettencourt; Mafalda Raposo; Nadiya Kazachkova ; Teresa Cymbron ; Cristina Santos; Teresa Kay; Joao Vasconcelos; Patricia Maciel ; Karina C Donis; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros ; Manuela Lima ;
PUBLISHED: 2011, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 68, ISSUE: 12
INDEXED IN: Scopus WOS
13
TITLE: Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death  Full Text
AUTHORS: Ana Joao Rodrigues ; Maria do Carmo Costa; Teresa Luisa Silva; Daniela Ferreira; Fernanda Bajanca; Elsa Logarinho ; Patricia Maciel ;
PUBLISHED: 2010, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1803, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 35
15
TITLE: Familial Aggregation of Maxillary Lateral Incisor Agenesis
AUTHORS: Pinho, T; Maciel, P ; Lemos, C ; Sousa, A ;
PUBLISHED: 2010, SOURCE: JOURNAL OF DENTAL RESEARCH, VOLUME: 89, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
18
TITLE: Motor and Behavioural Abnormalities Associated with Persistent Spontaneous Epilepsy in the fvb/n Mouse Strain
AUTHORS: Anabela Silva Fernandes ; Pedro Oliveira ; Nuno Sousa ; Patricia Maciel ;
PUBLISHED: 2010, SOURCE: SCANDINAVIAN JOURNAL OF LABORATORY ANIMAL SCIENCE, VOLUME: 37, ISSUE: 3
INDEXED IN: Scopus WOS
20
TITLE: Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis
AUTHORS: Teresa Pinho; Anabela Silva Fernandes ; Hassan Bousbaa ; Patricia Maciel ;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF ORTHODONTICS, VOLUME: 32, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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