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TITLE: EXPLORING THE MISSING LINK BETWEEN PRIMARY CILIA AND NEURODEVELOPMENTAL DISORDERS: THE CASE OF A NOVEL MBD5 VARIANT IN A PATIENT WITH SEVERE EPILEPSY  Full Text
AUTHORS: Martins, Mariana; RafaelaOliveira, Ana; Cammarata, Giuseppe; Martins, Solange; Perdigao, Pedro; Cardoso, Ana Luisa; Palma, Paulo; Sequeira, Diana B.; Santos, Joao Miguel; Vieira, Jose Pedro; Almeida, Luis P.; Duque, Frederico; Oliveira, Guiomar; Peca, Joao; Seabra, Catarina M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Language Predictors in Autism Spectrum Disorder: Insights from Neurodevelopmental Profile in a Longitudinal Perspective  Full Text
AUTHORS: Susana Mouga; Barbara Regadas Correia; Catia Cafe; Frederico Duque; Guiomar Oliveira;
PUBLISHED: 2020, SOURCE: JOURNAL OF ABNORMAL CHILD PSYCHOLOGY, VOLUME: 48, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders  Full Text
AUTHORS: Susana Mouga; Catia Cafe; Joana Almeida; Carla Marques; Frederico Duque; Guiomar Oliveira;
PUBLISHED: 2016, SOURCE: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, VOLUME: 46, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
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TITLE: Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders  Full Text
AUTHORS: Catarina T Correia; Ines C Conceicao; Barbara Oliveira; Joana Coelho; Ines Sousa; Ana F Sequeira; Joana Almeida; Catia Cafe; Frederico Duque; Susana Mouga; Wendy Roberts; Kun Gao; Jennifer K Lowe; Bhooma Thiruvahindrapuram; Susan Walker; Christian R Marshall; Dalila Pinto; John I Nurnberger; Stephen W Scherer; Daniel H Geschwind; Guiomar Oliveira; Astrid M Vicente; ...More
PUBLISHED: 2014, SOURCE: MOLECULAR AUTISM, VOLUME: 5, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome  Full Text
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 15