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Name
Maciel, Paula
 
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Publications
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Issue DateTitleAuthor(s)TypeAccess
12014Screening 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
222-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