41
TITLE: Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor
AUTHORS: Reuven Sharony; Sandra Martins ; Ines P D Costa; Roy Zaltzman; Amorim, Antonio ; Jorge Sequeiros; Carlos R Gordon;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 27, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 7
42
TITLE: Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal  Full Text
AUTHORS: Paneque, M ; Felix, J; Mendes, A; Lemos, C ; Ledo, S; Silva, J; Sequeiros, J;
PUBLISHED: 2019, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 32, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 12
43
TITLE: Diabetic patients need higher loop diuretic doses: a report on acute and chronic heart failure patients
AUTHORS: Cunha, FM; Pereira, J; Marques, P; Ribeiro, A; Bettencourt, P ; Lourenco, P ;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HEART FAILURE, VOLUME: 21
INDEXED IN: WOS
44
TITLE: A formula to calculate discharge furosemide dose after an acute heart failure hospitalization
AUTHORS: Lourenco, P ; Cunha, F; Pereira, J; Carreira, M; Marques, P; Ribeiro, A; Araujo, JP; Bettencourt, P;
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF HEART FAILURE, VOLUME: 21
INDEXED IN: WOS
45
TITLE: Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant  Full Text
AUTHORS: Tavares, I; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
INDEXED IN: Scopus WOS CrossRef
46
TITLE: The role of Neurexin (NRXN2) genetic network in migraine susceptibility  Full Text
AUTHORS: Miguel Alves Ferreira; Joao Luis Neto; Jose Pereira Monteiro; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
47
TITLE: Patients' Voices in Portugal - when rare becomes common  Full Text
AUTHORS: Catarina Costa; Isabel Alonso; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
48
TITLE: A Portuguese Tool for Quality Assessment of Genetic Counselling by Genetics Healthcare Professionals  Full Text
AUTHORS: Catarina Costa; Marina S Lemos; Carolina Lemos ; Miguel Alves Ferreira; Jorge Sequeiros; Milena Paneque ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
49
TITLE: Interpreting sequence variants: a daily challenge in a clinical molecular genetics laboratory  Full Text
AUTHORS: Rita Bastos Ferreira; Ana Filipa Brandao; Ana Margarida Lopes; Susana Sousa; Patricia Arinto; Sara Morais; Paulo Silva; Susana Barbosa; Diana Santos; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
50
TITLE: Ancestral Origin and diffusion of Va150Met mutation in Transthyretin-Related Familial Amyloid Polyneuropathy (ATTRV50M) in the Portuguese populations  Full Text
AUTHORS: Catia Leal; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Miguel Alves Ferreira; Carolina Lemos ;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
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