Browsing by Author Ferreira, Cristina

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Issue DateTitleAuthor(s)TypeAccess Type
Sep-2011Genetic defects in Portuguese families with inherited protein C deficiencyDavid, Dezso; Ferreira, Cristina; Ventura, Célia; Freire, Isabel; Moreira, Isabel; Gago, TeresaarticlerestrictedAccess
Sep-2016Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorderDuarte, M.; Moreira, A.; Antunes, D.; Ferreira, Cristina; Correia, Hildeberto; Sequeira, S.; Marques, M.conferenceObjectopenAccess
28-Sep-2012Nova abordagem Metodológica no Estudo do CATCH22Ferreira, Cristina; Marques, Bárbara; Silva, Catarina; Correia, HildebertoconferenceObjectopenAccess
Jun-2013Prenatal diagnosis of mosaic tetrasomy 18pSilva, Marisa; Geraldes, Maria Céu; Ferreira, Cristina; Marques, Bárbara; Furtado, José; Ventura, Catarina; Cohen, Alvaro; Correia, HildebertoconferenceObjectopenAccess
28-Sep-2012Prenatal Investigation of a Familial Partial Monosomy 10qSilva, Marisa; Marques, Bárbara; Brito, Filomena; Ferreira, Cristina; Furtado, José; Ventura, Catarina; Nunes, Luis; Kay, Teresa; Caetano, Paula; Correia, HildebertoconferenceObjectopenAccess
Jul-2011A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal originFerreira, Cristina; Marques, Bárbara; Alves, Cristina; Barbosa, Mafalda; Fortuna, Ana; Reis-Lima, Margarida; Correia, HildebertoconferenceObjectopenAccess
22-Nov-2012A retrospective study of Down syndrome in prenatal diagnosis. Did chorionic villus sampling allow a better prevention?Simão, Laurentino; Silva, Marisa; Brito, Filomena; Alves, Cristina; Marques, Bárbara; Ferreira, Cristina; Ambrósio, Paula; Silva, Maria do Céu; Ventura, Catarina; Duarte, Guida; Caetano, Paula; Correia, Joaquim; Melo, AntonietaconferenceObjectopenAccess
1-Jul-2015Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?Serafim, Silvia; Marques, Barbara; Filomena, Brito; Pedro, Sónia; Ferreira, Cristina; Ventura, Catarina; Gaspar, Isabel; Correia, HildebertoconferenceObjectopenAccess
Jul-2011Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocationMarques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Martins, Márcia; Pinto, Maximina; Dias, Cristina; David, DezsőconferenceObjectopenAccess
Nov-2015Trisomy 15 mosaicism: Challenges in prenatal diagnosisSilva, Marisa; Alves, Cristina; Pedro, Sónia; Marques, Bárbara; Ferreira, Cristina; Furtado, José; Martins, Ana Teresa; Fernandes, Rosário; Correia, Joaquim; Correia, HildebertoarticleembargoedAccess