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TITLE: The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Clara D van Karnebeek; Cecilia Martins; Diana Antunes; Joao Silva; Lauren Muttucomaroe; Luis Filipe Botelho; Susana Sousa; Paula Rendeiro; Purificacao Tavares; Hilde Van Esch; Evica Rajcan Separovic; Patricia Maciel;
PUBLISHED: 2019, SOURCE: FRONTIERS IN GENETICS, VOLUME: 10, ISSUE: FEB
INDEXED IN: Scopus WOS
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TITLE: Genomic imbalances defining novel intellectual disability associated loci  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Mafalda Barbosa; Joao Silva; Frederico Duque; Miguel Rocha; Joaquim Sa; Guiomar Oliveira; Maria Joao Sa ; Teresa Temudo; Susana Sousa; Carla Marques; Sofia Lopes; Catarina Gomes; Gisela Barros; Arminda Jorge; Felisbela Rocha; Cecilia Martins; Sandra Mesquita; Susana Loureiro; Elisa Maria Cardoso; Maria Jose Calix; Andreia Dias; Cristina Martins; Ceu R Mota; Diana Antunes; Juliette Dupont; Sara Figueiredo; Sonia Figueiroa; Susana Gama de Sousa; Sara Cruz; Adriana Sampaio; Paul Eijk; Marjan M Weiss; Bauke Ylstra; Paula Rendeiro; Purificacao Tavares; Margarida Reis Lima; Jorge Pinto Basto; Ana Maria Fortuna; Patricia Maciel; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: The contribution of 7q33 copy number variations for intellectual disability  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Sally Ann Lynch; Arminda Jorge; Susana Sousa; Joao Silva; Paula Rendeiro; Purificacao Tavares; Ana Maria Fortuna; Patricia Maciel;
PUBLISHED: 2018, SOURCE: NEUROGENETICS, VOLUME: 19, ISSUE: 1
INDEXED IN: WOS
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TITLE: Epileptic Encephalopathy in Adam-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype
AUTHORS: Livia Pisciotta; Valeria Capra; Andrea Accogli; Thea Giacomini; Giulia Prato; Purificacao Tavares; Jorge Pinto Basto; Giovanni Morana; Maria Margherita Mancardi;
PUBLISHED: 2018, SOURCE: NEUROPEDIATRICS, VOLUME: 49, ISSUE: 3
INDEXED IN: WOS
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TITLE: BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report  Full Text
AUTHORS: Ana P Azevedo; Alice Reichert; Celina Afonso; Maria D Alberca; Purificacao Tavares; Fernando Lima;
PUBLISHED: 2017, SOURCE: CLINICAL MEDICINE INSIGHTS-ONCOLOGY, VOLUME: 11
INDEXED IN: Scopus WOS
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TITLE: Different manifestations of Class II Division 2 incisor retroclination: A morphologic study  Full Text
AUTHORS: Pedro Mariano Pereira; Afonso Pinhao Ferreira; Purificacao Tavares; Ana Cristina Braga ;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS, VOLUME: 143, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature  Full Text
AUTHORS: Claudia Melo ; Susana Gama de Sousa; Filipa Almeida; Paula Rendeiro; Purificacao Tavares; Helena Cardoso; Sonia Carvalho;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 529, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 10
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TITLE: Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies
AUTHORS: Pereira, PM; Ferreira, AP; Tavares, P; Braga, AC;
PUBLISHED: 2013, SOURCE: Journal of Orthodontics, VOLUME: 40, ISSUE: 4
INDEXED IN: Scopus CrossRef
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TITLE: DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells  Full Text
AUTHORS: Joana Dinis; Vania Silva; Marta Gromicho ; Celia Martins; Antonio Laires; Purificacao Tavares; Paula Rendeiro; Fatima Torres; Jose Rueff ; Antonio Rodrigues ;
PUBLISHED: 2012, SOURCE: LEUKEMIA & LYMPHOMA, VOLUME: 53, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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