Browsing by Author Bourbon, M.

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 82 to 88 of 88 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
8-Dec-2015Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicityFernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.; Ostolaza, H.; Bourbon, M.; Martin, C.articleopenAccess
Jun-2012The impact of cascade screening in familial hypercholesterolemia diagnosisGomes, A.; Medeiros, A.M.; Leitão, F.; Alves, A.C.; Bourbon, M.conferenceObjectopenAccess
5-Mar-2015The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemiaBenito-Vicente, A.; Alves, A.C; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.articleembargoedAccess
May-2012To have or not to have familial hypercholesterolaemia, that is the question: genetic and different clinical criteriaAlves, A.C.; Medeiros, A.M.; Berguete, S.; Bourbon, M.conferenceObjectembargoedAccess
Jun-2011Update of the biochemical and molecular results of Portuguese patients with Familial Combined HyperlipidaemiaSantos, T.; Rato, Q.; Gaspar, I.M.; Rico, M.T.; Silva, J.M.; Bourbon, M.conferenceObjectembargoedAccess
Oct-2010Update of the Portuguese Familial Hypercholesterolaemia StudyMedeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.; Investigators of the Portuguese FH StudyarticleopenAccess
Jun-2012Whole-exome sequencing in patients with clinical diagnosis of Familial HypercholesterolaemiaAlves, A.C.; Bourbon, M.conferenceObjectembargoedAccess