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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...


Coworking: relações entre sustentabilidade e consumo colaborativo nos espaços d...

Martins, Solange; Santiago, Mariana Ribeiro

Submitted by tgoncalv@stj.jus.br (tgoncalv@stj.jus.br) on 2020-12-14T19:06:36Z No. of bitstreams: 2 coworking_relacoes_sustentabilidade_martins.pdf: 1118311 bytes, checksum: 6bba54db0487ff0dbbe7e49acff798dd (MD5) license.txt: 1239 bytes, checksum: c9b4c351324448672315a00808efb725 (MD5); Approved for entry into archive by Stephanie Moira (rsmoira@stj.jus.br) on 2021-02-10T17:00:07Z (GMT) No. of bitstreams: 2 cow...

Date: 2021   |   Origin: Oasisbr

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