Browsing by Author David, Dezso

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Issue DateTitleAuthor(s)TypeAccess Type
Jun-2013Disruption of NUBPL due to balanced translocation [t(3;14)(q26.33;q14)] increases severity of a family-specific PGK1 mutationDavid, Dezso; Haltrich, Iren; Marques, Barbara; Fernandes, Catarina; Malveiro, Sara; Fekete, GyörgyconferenceObjectopenAccess
2015Doenças Genómicas e Rearranjos Cromossómicos: folheto de divulgação do Programa de InvestigaçãoDavid, DezsootheropenAccess
12-May-2016As doenças raras na Europa: o enquadramento portuguêsGómez, Verónica; Rama, Patrícia; Machado, Ausenda; Braz, Paula; Furtado, Cristina; David, Dezso; Miranda, Natércia; Isidro, GlóriaarticleopenAccess
Nov-2015Exclusion of inv(2)(p16.1;q14.3) as the cause of a severe congenital disease by Next-Generation SequencingPinto Cardoso, Manuela; Talkowski, Michael E.; Freixo, João; Gonçalves, Rui; Morton, Cynthia C.; David, DezsoconferenceObjectopenAccess
Sep-2011Genetic defects in Portuguese families with inherited protein C deficiencyDavid, Dezso; Ferreira, Cristina; Ventura, Célia; Freire, Isabel; Moreira, Isabel; Gago, TeresaarticlerestrictedAccess
2015Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal RearrangementsDavid, Dezso; Freixo, João; Carvalho, Inês; Tkachenko, Natalia; Oliva Teles, Natália; Marques, Bárbara; Alves, Ana Cristina; Fortuna, Ana; Sofia, Dória; Pinto de Moura, Carla; Gaspar, Isabel; Marques Carreira, Isabel; Sá, Joaquim; Gonçalves, Rui; Lavinha, João; Kay, Teresa; Correia, Hildeberto; Talkowski, Michael E.; Morton, Cynthia C.conferenceObjectopenAccess