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TITLE: EXPLORING THE MISSING LINK BETWEEN PRIMARY CILIA AND NEURODEVELOPMENTAL DISORDERS: THE CASE OF A NOVEL MBD5 VARIANT IN A PATIENT WITH SEVERE EPILEPSY  Full Text
AUTHORS: Martins, Mariana; RafaelaOliveira, Ana; Cammarata, Giuseppe; Martins, Solange; Perdigao, Pedro; Cardoso, Ana Luisa; Palma, Paulo; Sequeira, Diana B.; Santos, Joao Miguel; Vieira, Jose Pedro; Almeida, Luis P.; Duque, Frederico; Oliveira, Guiomar; Peca, Joao; Seabra, Catarina M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: Generation and Characterization of Novel iPSC Lines from a Portuguese Family Bearing Heterozygous and Homozygous GRN Mutations
AUTHORS: Oliveira, Ana Rafaela; Martins, Solange; Cammarata, Giuseppe; Martins, Mariana; Cardoso, Ana Maria; Almeida, Maria Rosario; Macario, Maria do Carmo; Santana, Isabel; Peca, Joao; Cardoso, Ana Luisa;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef