62
TITLE: Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects  Full Text
AUTHORS: Carina Rodrigues; Emilia Vieira; Rosario Santos; Joao de Carvalho; Alice Santos-Silva ; Elisio Costa ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2012, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 48, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 21
IN MY: ORCID
63
TITLE: Bilirubin Dependence on UGT1A1 Polymorphisms, Hemoglobin, Fasting Time and Body Mass Index
AUTHORS: Carina Rodrigues; Elisio Costa ; Emilia Vieira; Joao De Carvalho; Rosario Santos; Petronila Rocha Pereira; Alice Santos-Silva ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF THE MEDICAL SCIENCES, VOLUME: 343, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
64
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
INDEXED IN: Scopus WOS DBLP CrossRef
IN MY: ORCID
65
TITLE: Gathering and managing genotype and phenotype information about rare diseases patients
AUTHORS: Mendonca, R; Lopes, P ; Rocha, H; Oliveira, J; Vilarinho, L; Santos, R; Oliveira, JL ;
PUBLISHED: 2012, SOURCE: HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics in HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics
INDEXED IN: Scopus DBLP
IN MY: ORCID
66
TITLE: The first portuguese families with limb-girdle muscular dystrophy 2L [Apresentação das primeiras famílias portuguesas com distrofia muscular das cinturas 2L]
AUTHORS: Negrao, L; Geraldo, A; Matos, A; Rebelo, O; Santos, R; Marques, C;
PUBLISHED: 2012, SOURCE: Sinapse, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
68
TITLE: FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes  Full Text
AUTHORS: Seixas, AI; Vale, J; Jorge, P; Marques, I; Santos, R; Alonso, I ; Fortuna, AM; Pinto Basto, J; Coutinho, P ; Margolis, RL; Sequeiros, J ; Silveira, I ;
PUBLISHED: 2011, SOURCE: BEHAVIORAL AND BRAIN FUNCTIONS, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
69
TITLE: Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
AUTHORS: Silvia Pires; Antonio J A Nogueira ; Odilia Pinho; Tiago Delgado; Mario Sousa ; Rosario Santos; Paula Jorge;
PUBLISHED: 2011, SOURCE: TWIN RESEARCH AND HUMAN GENETICS, VOLUME: 14, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
70
TITLE: Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America  Full Text
AUTHORS: Luis Vernengo; Jorge Oliveira; Martin Krahn; Emilia Vieira; Rosario Santos; Luisa Carrasco; Luis Negrao; Ana Panuncio; France Leturcq; Veronique Labelle; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rosario Mesa; Carlos Pizzarossa; Nicolas Levy; Maria Mirta Rodriguez;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
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