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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...


Evaluation of the Interfaces between Restorative and Regenerative Biomaterials ...

Xavier, Maria Teresa; Costa, Ana Luísa; Caramelo, Francisco José; Palma, Paulo Jorge; Ramos, João Carlos

Background: Calcium-silicate-based cements (CSC) have gained an increasing scientific and clinical relevance, enabling more conservative approaches, namely pulp preservation and regeneration therapies. This research aims to study the influence of four clinical variables on the interfaces between CSC and composite adhesive restoration, concerning shear bond strength (SBS) and ultra-morphological patterns. Method...


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