Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
91
TITLE: Limb-girdle muscular dystrophy type 21: Report of the first Portuguese clinical cases [Distrofia Muscular das Cinturas tipo 21: Apresentação dos primeiros casos clínicos Portugueses]
AUTHORS: Negrao, L; Geraldo, A; Rebelo, O; Marques, A; Santos, R; Cunha, L;
PUBLISHED: 2005, SOURCE: Sinapse, VOLUME: 5, ISSUE: 1
AUTHORS: Negrao, L; Geraldo, A; Rebelo, O; Marques, A; Santos, R; Cunha, L;
PUBLISHED: 2005, SOURCE: Sinapse, VOLUME: 5, ISSUE: 1
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID92
TITLE: Determination of neutrophil Fc gamma receptor IIIb antigens (HNA-1a, HNA-1b and HNA-1c) by fluorescence-primed allele-specific polymerase chain reaction Full Text
AUTHORS: Costa, E ; Antunes, MB; Faria, S; Vieira, E; Branca, R; Barbot, J; Dos Santos, R;
PUBLISHED: 2004, SOURCE: CLINICAL AND LABORATORY HAEMATOLOGY, VOLUME: 26, ISSUE: 5
AUTHORS: Costa, E ; Antunes, MB; Faria, S; Vieira, E; Branca, R; Barbot, J; Dos Santos, R;
PUBLISHED: 2004, SOURCE: CLINICAL AND LABORATORY HAEMATOLOGY, VOLUME: 26, ISSUE: 5
93
TITLE: A new case of (TA)8 allele in the UGT1A1 gene promoter in a Caucasian girl with Gilbert syndrome Full Text
AUTHORS: Coelho, H; Costa, E ; Vieira, E; Branca, R; dos Santos, R; Barbot, J;
PUBLISHED: 2004, SOURCE: PEDIATRIC HEMATOLOGY AND ONCOLOGY, VOLUME: 21, ISSUE: 5
AUTHORS: Coelho, H; Costa, E ; Vieira, E; Branca, R; dos Santos, R; Barbot, J;
PUBLISHED: 2004, SOURCE: PEDIATRIC HEMATOLOGY AND ONCOLOGY, VOLUME: 21, ISSUE: 5
94
TITLE: Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family
AUTHORS: Rivas, E; Teijeira, S; Dos Santos, MR; Porrit, I; Leturcq, F; Fernandez, JM; Navarro, C;
PUBLISHED: 2004, SOURCE: Acta Myologica, VOLUME: 23, ISSUE: 3
AUTHORS: Rivas, E; Teijeira, S; Dos Santos, MR; Porrit, I; Leturcq, F; Fernandez, JM; Navarro, C;
PUBLISHED: 2004, SOURCE: Acta Myologica, VOLUME: 23, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID95
TITLE: Sudden infant death syndrome - Molecular and biochemical investigation [Investigação bioquímica e molecular na morte súbita do lactente (SIDS)]
AUTHORS: Cardoso, ML; Pinheiro, J; Pereira, C; Sousa, C; Nogueira, C; Tesa, A; Ramos, A; Balreira, A; Lima, C; Valongo, C; Couto, D; Quelhas, D; Fonseca, H; Rocha, H; Almeida, L; Rodrigues, R; Santos, R; Santorelli, FM; Vilarinho, L;
PUBLISHED: 2004, SOURCE: Nascer e Crescer, VOLUME: 13, ISSUE: 3
AUTHORS: Cardoso, ML; Pinheiro, J; Pereira, C; Sousa, C; Nogueira, C; Tesa, A; Ramos, A; Balreira, A; Lima, C; Valongo, C; Couto, D; Quelhas, D; Fonseca, H; Rocha, H; Almeida, L; Rodrigues, R; Santos, R; Santorelli, FM; Vilarinho, L;
PUBLISHED: 2004, SOURCE: Nascer e Crescer, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID96
TITLE: Pentanucleotide repeat (TTTTA)n polymorphism in the 5' control region of the apoliprotein (A) gene and atherothrombotic serum lipoprotein (A) concentration, in a pediatric population.
AUTHORS: Ferreira, H; Costa, E ; Vieira, E; Leao, A; Magalhães, R ; Gomes, JL; Barbot, J; dos Santos, R;
PUBLISHED: 2003, SOURCE: Haematologica, VOLUME: 88, ISSUE: 3
AUTHORS: Ferreira, H; Costa, E ; Vieira, E; Leao, A; Magalhães, R ; Gomes, JL; Barbot, J; dos Santos, R;
PUBLISHED: 2003, SOURCE: Haematologica, VOLUME: 88, ISSUE: 3
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID97
TITLE: The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe Full Text
AUTHORS: Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P ; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzalez Duarte, R; ...More
PUBLISHED: 2002, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10, ISSUE: 3
AUTHORS: Maugeri, A; Flothmann, K; Hemmrich, N; Ingvast, S; Jorge, P ; Paloma, E; Patel, R; Rozet, JM; Tammur, J; Testa, F; Balcells, S; Bird, AC; Brunner, HG; Hoyng, CB; Metspalu, A; Simonelli, F; Allikmets, R; Bhattacharya, SS; D'Urso, M; Gonzalez Duarte, R; ...More
PUBLISHED: 2002, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10, ISSUE: 3
INDEXED IN: Scopus 
WOS
Scopus WOS IN MY: ORCID
ORCID98
TITLE: Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert's syndrome [Défice de glicose-6-fosfato desidrogenase, ictericia neonatal e sindroma de Gilbert]
AUTHORS: Costa, E ; Vieira, E; Cleto, E; Cabeda, JM ; Pinho, L; Coimbra, E; Dos Santos, R; Barbot, J;
PUBLISHED: 2002, SOURCE: Acta Medica Portuguesa, VOLUME: 15, ISSUE: 6
AUTHORS: Costa, E ; Vieira, E; Cleto, E; Cabeda, JM ; Pinho, L; Coimbra, E; Dos Santos, R; Barbot, J;
PUBLISHED: 2002, SOURCE: Acta Medica Portuguesa, VOLUME: 15, ISSUE: 6
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID99
TITLE: Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease [Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénita]
AUTHORS: Costa, E ; Pinto, R; Vieira, E; Polo, S; Sarmento, AM; Oliveira, I; Pimenta, R; dos Santos, R; Barbot, J;
PUBLISHED: 2002, SOURCE: Anales Espanoles de Pediatria, VOLUME: 57, ISSUE: 6
AUTHORS: Costa, E ; Pinto, R; Vieira, E; Polo, S; Sarmento, AM; Oliveira, I; Pimenta, R; dos Santos, R; Barbot, J;
PUBLISHED: 2002, SOURCE: Anales Espanoles de Pediatria, VOLUME: 57, ISSUE: 6
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID100
TITLE: TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome.
AUTHORS: Costa, E ; Vieira, E; Santos Silva, E; Barbot, J; dos Santos, R;
PUBLISHED: 2002, SOURCE: Haematologica, VOLUME: 87, ISSUE: 4
AUTHORS: Costa, E ; Vieira, E; Santos Silva, E; Barbot, J; dos Santos, R;
PUBLISHED: 2002, SOURCE: Haematologica, VOLUME: 87, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID