A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia

por Martins, Mariana, Oliveira, Ana Rafaela, Martins, Solange, Vieira, José Pedro, Perdigão, Pedro, Fernandes, Ana Rita, de Almeida, Luís Pereira, Palma, Paulo Jorge, Sequeira, Diana Bela, Santos, João Miguel Marques, Duque, Frederico, Oliveira, Guiomar, Cardoso, Ana Luísa, Peça, João, Seabra, Catarina Morais
Publicado 2023