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A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...

Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; Almeida, Luís Pereira de

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...


Determination by ICP-MS of essential and toxic trace elements in gums and carra...

Azevedo, Rui; Oliveira, Ana Rafaela; Almeida, Agostinho; Gomes, Lígia Rebelo

Gums and carrageenans are food additives widely used in food preparations to improve texture and as viscosifiers. Although they are typically added in small amounts, nowadays people tend to use more and more pre-prepared food. In this work, the content of a wide panel of trace elements in commercial products were analyzed. Carrageenans and gums (n = 13) were purchased in the Portuguese market and were from Euro...


Comunicação autárquica: influência do gabinete de comunicação da Câmara Municip...

Oliveira, Ana Rafaela

A capacidade de comunicar é inerente ao ser humano desde os seus tempos mais primitivos, assumindo na era moderna uma importância indiscutível. A comunicação organizacional, campo onde se foca este relatório, é indispensável para a comunicação com os públicos internos e externos, nomeadamente através da relação com os média, e as ferramentas de comunicação permitem a uma organização aumentar a sua visibilidade ...


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