Search Results - "Fogo, Mariana"
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Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport
Published in Frontiers in cellular neuroscience (13-01-2022)“…Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The…”
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O desenho animado rotoscópico e o Vale da Estranheza: vícios e soluções
Published in Diálogo com a Economia Criativa (18-12-2021)“…O escopo desta pesquisa foi o desenho animado rotoscópico. A rotoscopia é uma técnica em que os quadros da animação são produzidos pelo decalque dos quadros de…”
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Rare RELN variants affect Reelin–DAB1 signal transduction in autism spectrum disorder
Published in Human mutation (01-10-2018)“…The Reelin–DAB1 signaling pathway plays a crucial role in regulating neuronal migration and synapse function. Although many rare heterozygous variants in the…”
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