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Name
Anjos, Rui
 
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Publications
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Results 1-4 of 4 (Search time: 0.003 seconds).

Issue DateTitleAuthor(s)TypeAccess
1May-2018Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alterationPars, 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.articleopenAccess
22017Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alterationCristo, 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.articleopenAccess
32014Screening 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 triplicationPires, Renato ; Pires, Luís M. ; Vaz, Sara O. ; Maciel, Paula ; Anjos, Rui ; Moniz, Raquel ; Branco, Claudia C. ; Cabral, Rita ; Carreira, Isabel M. ; Mota-Vieira, Luisa articleopenAccess
422-Aug-2015A 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 casesVaz, Sara O. ; Pires, Renato ; Pires, Luís M. ; Carreira, Isabel M. ; Anjos, Rui ; Maciel, Paula ; Mota-Vieira, Luisa articleopenAccess