Browsing by Author David, Dezső

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Showing results 2 to 6 of 6 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
27-Mar-2015Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL GeneDavid, Dezső; Almeida, Lígia S.; Maggi, Maristella; Carlos, Araújo; Imreh, Stefan; Valentini, Giovanna; Fekete, Gyorgy; Haltrich, IrénbookPartopenAccess
Nov-2013Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expressionDavid, Dezső; Marques, Bárbara; Ferreira, Cristina; Araújo, Carlos; Vieira, Luís; Soares, Gabriela; Dias, Cristina; Pinto, MaximinaarticleembargoedAccess
Jun-2013Disruption of NUBPL due to balanced translocation [t(3;14) (q26.33;q14)] increases severity of a family-specific PGK1 mutationDavid, Dezső; Haltrich, Iren; Marques, Barbara; Fernandes, Cristina; Malveiro, Sara; Fekete, GyörgyconferenceObjectrestrictedAccess
Jul-2011A pathogenic breakpoint at 566.8 kb from the 3′ end of the SATB2 leads to a 2q33.1 microdeletionlike phenotypeDavid, Dezső; Santos, Inês; Marques, Bárbara; Correia, Hildeberto; Teixeira, FilomenaconferenceObjectopenAccess
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