Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
81
TITLE: Compound heterozygosity in Central Core Disease: Case report
AUTHORS: Negrao, L; Matos, A; Rebelo, M; Rebelo, O; Geraldo, A; Vieira, J; Santos, R;
PUBLISHED: 2008, SOURCE: Sinapse, VOLUME: 8, ISSUE: 1
AUTHORS: Negrao, L; Matos, A; Rebelo, M; Rebelo, O; Geraldo, A; Vieira, J; Santos, R;
PUBLISHED: 2008, SOURCE: Sinapse, VOLUME: 8, ISSUE: 1
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID82
TITLE: Dysferlinopathy: Unilateral foot drop of late onset - Case report
AUTHORS: Negrao, L; Matos, A; Geraldo, A; Rebelo, O; Santos, R; Vieira, E; Marques, C;
PUBLISHED: 2008, SOURCE: Sinapse, VOLUME: 8, ISSUE: 2
AUTHORS: Negrao, L; Matos, A; Geraldo, A; Rebelo, O; Santos, R; Vieira, E; Marques, C;
PUBLISHED: 2008, SOURCE: Sinapse, VOLUME: 8, ISSUE: 2
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID83
TITLE: Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.
AUTHORS: Costa, E ; Vieira, E; Rodrigues, L; Lopes, AI; dos Santos, R;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 124, ISSUE: 3
AUTHORS: Costa, E ; Vieira, E; Rodrigues, L; Lopes, AI; dos Santos, R;
PUBLISHED: 2008, SOURCE: Human genetics, VOLUME: 124, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID84
TITLE: Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome Full Text
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
AUTHORS: Elisio Costa ; Frederico Duque; Jorge Oliveira; Paula Garcia; Isabel Goncalves; Luisa Diogo; Rosario Santos;
PUBLISHED: 2007, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 39, ISSUE: 1
85
TITLE: Molecular study of Portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome Full Text
AUTHORS: Costa, E ; Oliveira, J; Vieira, E; Duque, F; Garcia, P; Goncalves, I; Diego, L; Barbot, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
AUTHORS: Costa, E ; Oliveira, J; Vieira, E; Duque, F; Garcia, P; Goncalves, I; Diego, L; Barbot, J; Santos, R;
PUBLISHED: 2007, SOURCE: 12th Congress of the European-Hematology-Association in HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92
INDEXED IN: 
WOS 
Handle
WOS Handle86
TITLE: Generalized muscle hypertrophy, multiple minicores and ryanodine receptor type-1 mutation - Case report
AUTHORS: Negrao, L; Matos, A; Geraldo, A; Rebelo, O; Marques, C; Guimaraes, A; Santos, R;
PUBLISHED: 2007, SOURCE: Sinapse, VOLUME: 7, ISSUE: 1
AUTHORS: Negrao, L; Matos, A; Geraldo, A; Rebelo, O; Marques, C; Guimaraes, A; Santos, R;
PUBLISHED: 2007, SOURCE: Sinapse, VOLUME: 7, ISSUE: 1
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID87
TITLE: Genes, children and paediatricians
AUTHORS: Cristina Dias; Manuela Santos; Manuela Vilarinho; Rosário Santos; Ana Maria Fortuna; Margarida Reis Lima;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 3
AUTHORS: Cristina Dias; Manuela Santos; Manuela Vilarinho; Rosário Santos; Ana Maria Fortuna; Margarida Reis Lima;
PUBLISHED: 2007, SOURCE: Nascer e Crescer, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID88
TITLE: Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes Full Text
AUTHORS: Costa, E ; Vieira, E; Martins, M; Saraiva, J; Cancela, E; Costa, M; Bauerle, R; Freitas, T; Carvalho, JR; Santos Silva, E; Barbot, J; dos Santos, R;
PUBLISHED: 2006, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 36, ISSUE: 1
AUTHORS: Costa, E ; Vieira, E; Martins, M; Saraiva, J; Cancela, E; Costa, M; Bauerle, R; Freitas, T; Carvalho, JR; Santos Silva, E; Barbot, J; dos Santos, R;
PUBLISHED: 2006, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 36, ISSUE: 1
89
TITLE: Dysferlinopathies: Clinical and genetic heterogeneity in eight patients [Disferlinopatias: Heterogeneidade clínica e genética em oito doentes]
AUTHORS: Negrao, L; Geraldo, A; Rebelo, O; Matos, A; Santos, R;
PUBLISHED: 2006, SOURCE: Sinapse, VOLUME: 6, ISSUE: 1
AUTHORS: Negrao, L; Geraldo, A; Rebelo, O; Matos, A; Santos, R;
PUBLISHED: 2006, SOURCE: Sinapse, VOLUME: 6, ISSUE: 1
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID90
TITLE: The polymorphism c.-3279T > G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome
AUTHORS: Costa, E ; Vieira, E; dos Santos, R;
PUBLISHED: 2005, SOURCE: CLINICAL CHEMISTRY, VOLUME: 51, ISSUE: 11
AUTHORS: Costa, E ; Vieira, E; dos Santos, R;
PUBLISHED: 2005, SOURCE: CLINICAL CHEMISTRY, VOLUME: 51, ISSUE: 11
