Browsing by Author Marques, Barbara

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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, Dezső; Haltrich, Iren; Marques, Barbara; Fernandes, Cristina; Malveiro, Sara; Fekete, GyörgyconferenceObjectrestrictedAccess
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
15-Feb-2011A multilocus technique for risk evaluation of patients with neuroblastomaAmbros, Inge M.; Brunner, Bettina; Aigner, Gerhard; Bedwell, Clare; Beiske, Klaus; Bénard, Jean; Bown, Nick; Combaret, Valerie; Couturier, Jerome; Defferrari, Raffaella; Gross, Nicole; Jeison, Marta; Lunec, John; Marques, Barbara; Martinsson, Tommy; Mazzocco, Katia; Noguera, Rosa; Schleiermacher, Gudrun; Speleman, Frank; Stallings, Ray; Tonini, Gian Paolo; Tweddle, Deborah A.; Valent, Alexander; Vicha, Ales; Van Roy, Nadine; Villamon, Eva; Ziegler, Andrea; Preuner, Sandra; Drobics, Mario; Ladenstein, Ruth; Amann, Gabriele; Schuit, Robert J.L.; Pötschger, Ulrike; Ambros, Peter F.articlerestrictedAccess
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