Percorrer por autor Anjos, Rui
Mostrar resultados 1-4 de 4.
| Data de publicação | Título | Autor(es) | Tipo | Acesso |
|---|---|---|---|---|
| Mai-2018 | Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration | Pars, Selin; Cristo, Fernando; Inácio, José M.; Rosas, Graça; Carreira, Isabel Marques ; Melo, Joana Barbosa ; Mendes, Patrícia; Martins, Duarte Saraiva; Almeida, Luís Pereira de ; Maio, José; Anjos, Rui ; Belo, José A. | article | openAccess |
| 2017 | Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration | Cristo, Fernando; Inácio, José M; Rosas, Graça; Carreira, Isabel Marques ; Melo, Joana Barbosa ; Almeida, Luís Pereira de ; Mendes, Patrícia; Martins, Duarte Saraiva; Maio, José; Anjos, Rui ; Belo, José A. | article | openAccess |
| 2014 | Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication | Pires, Renato ; Pires, Luís M. ; Vaz, Sara O. ; Maciel, Paula ; Anjos, Rui ; Moniz, Raquel ; Branco, Claudia C. ; Cabral, Rita ; Carreira, Isabel M. ; Mota-Vieira, Luisa | article | openAccess |
| 22-Ago-2015 | A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases | Vaz, Sara O. ; Pires, Renato ; Pires, Luís M. ; Carreira, Isabel M. ; Anjos, Rui ; Maciel, Paula ; Mota-Vieira, Luisa | article | openAccess |