Browsing by Author Correia, Hildeberto

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Issue DateTitleAuthor(s)TypeAccess Type
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
Jun-2011A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 and 20 in a child with dysmorphic featuresAlves, Cristina; Marques, Bárbara; Brito, Filomena; Silva, Marisa; Rodrigues, Rosário; Duarte, Guida; Sousa, Ana Berta; Bicho, Anabela; Correia, HildebertoconferenceObjectopenAccess
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
22-Nov-2012Três rearranjos diferentes, três fenótipos diferentes :Estudo Familiar Cromossoma 14Lopes, Elisa; Silva, Isaltina; Mota Freitas, Manuela; Oliva Teles, Natalia; Fortuna, Ana; Correia, Hildeberto; Fonseca e Silva ML 1., Maria da LuzconferenceObjectopenAccess
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