Susana Alves Seixas
AuthID: R-000-GTS
41
TITLE: Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal Full Text
AUTHORS: Deolinda Silva; Maria Joao Oliveira; Miguel Guimaraes; Ricardo Lima; Silvia Gomes; Susana Seixas;
PUBLISHED: 2016, SOURCE: RESPIRATORY MEDICINE, VOLUME: 116
AUTHORS: Deolinda Silva; Maria Joao Oliveira; Miguel Guimaraes; Ricardo Lima; Silvia Gomes; Susana Seixas;
PUBLISHED: 2016, SOURCE: RESPIRATORY MEDICINE, VOLUME: 116
42
TITLE: Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders Full Text
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 17, ISSUE: 7
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2016, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 17, ISSUE: 7
43
TITLE: Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
AUTHORS: Maria Francisca Coutinho; Marisa Encarnacao; Francisco Laranjeira ; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
AUTHORS: Maria Francisca Coutinho; Marisa Encarnacao; Francisco Laranjeira ; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2016, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 29, ISSUE: 10
44
TITLE: Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes
AUTHORS: Patricia Isabel Marques; Filipa Fonseca; Ana Sofia Carvalho; Diana A Puente; Isabel Damiao; Vasco Almeida ; Nuno Barros; Alberto Barros ; Filipa Carvalho ; Mikel Azkargorta; Felix Elortza; Hugo Osorio; Rune Matthiesen; Victor Quesada; Susana Seixas;
PUBLISHED: 2016, SOURCE: HUMAN REPRODUCTION, VOLUME: 31, ISSUE: 12
AUTHORS: Patricia Isabel Marques; Filipa Fonseca; Ana Sofia Carvalho; Diana A Puente; Isabel Damiao; Vasco Almeida ; Nuno Barros; Alberto Barros ; Filipa Carvalho ; Mikel Azkargorta; Felix Elortza; Hugo Osorio; Rune Matthiesen; Victor Quesada; Susana Seixas;
PUBLISHED: 2016, SOURCE: HUMAN REPRODUCTION, VOLUME: 31, ISSUE: 12
45
TITLE: Determination of the spectroscopic stellar parameters for 257 field giant stars Full Text
AUTHORS: Alves, S; Benamati, L; Santos, NC ; Zh Z Adibekyan ; Sousa, SG ; Israelian, G; De Medeiros, JR; Lovis, C; Udry, S;
PUBLISHED: 2015, SOURCE: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, VOLUME: 448, ISSUE: 3
AUTHORS: Alves, S; Benamati, L; Santos, NC ; Zh Z Adibekyan ; Sousa, SG ; Israelian, G; De Medeiros, JR; Lovis, C; Udry, S;
PUBLISHED: 2015, SOURCE: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, VOLUME: 448, ISSUE: 3
46
TITLE: The Mutational Spectrum of WT1 in Male Infertility
AUTHORS: Catarina M Seabra; Sofia Quental; Ana C Lima; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Iris Pereira; Julia Silva; Patricia I Marques; Mario Sousa ; Alberto Barros ; Susana Seixas; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
AUTHORS: Catarina M Seabra; Sofia Quental; Ana C Lima; Filipa Carvalho ; Joao Goncalves; Susana Fernandes; Iris Pereira; Julia Silva; Patricia I Marques; Mario Sousa ; Alberto Barros ; Susana Seixas; Amorim, Antonio ; Alexandra M Lopes;
PUBLISHED: 2015, SOURCE: JOURNAL OF UROLOGY, VOLUME: 193, ISSUE: 5
47
TITLE: Distinctive Patterns of Evolution of the delta-Globin Gene (HBD) in Primates Full Text
AUTHORS: Ana Moleirinho; Alexandra M Lopes; Susana Seixas; Ramiro Morales Hojas; Maria J Prata ; Amorim, Antonio ;
PUBLISHED: 2015, SOURCE: PLOS ONE, VOLUME: 10, ISSUE: 4
AUTHORS: Ana Moleirinho; Alexandra M Lopes; Susana Seixas; Ramiro Morales Hojas; Maria J Prata ; Amorim, Antonio ;
PUBLISHED: 2015, SOURCE: PLOS ONE, VOLUME: 10, ISSUE: 4
48
TITLE: Chemical abundances and kinematics of 257 G-, K-type field giants. Setting a base for further analysis of giant-planet properties orbiting evolved stars Full Text
AUTHORS: Zh. Z Adibekyan ; Benamati, L; Santos, NC ; Alves, S; Lovis, C; Udry, S; Israelian, G; Sousa, SG ; Tsantaki, M; Mortier, A; Sozzetti, A; De Medeiros, JR;
PUBLISHED: 2015, SOURCE: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, VOLUME: 450, ISSUE: 2
AUTHORS: Zh. Z Adibekyan ; Benamati, L; Santos, NC ; Alves, S; Lovis, C; Udry, S; Israelian, G; Sousa, SG ; Tsantaki, M; Mortier, A; Sozzetti, A; De Medeiros, JR;
PUBLISHED: 2015, SOURCE: MONTHLY NOTICES OF THE ROYAL ASTRONOMICAL SOCIETY, VOLUME: 450, ISSUE: 2
49
TITLE: Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. Analyses of M6P-independent trafficking genes Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Pinto, E; Ribeiro, H; Macedo Ribeiro, S; Castro, L; Prata, MJ ; Alves, S;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 2
50
TITLE: Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure Full Text
AUTHORS: Lima, AC; Carvalho, F ; Goncalves, J; Fernandes, S; Marques, PI; Sousa, M ; Barros, A ; Seixas, S; Amorim, Antonio ; Conrad, DF; Lopes, AM;
PUBLISHED: 2015, SOURCE: ANDROLOGY, VOLUME: 3, ISSUE: 5
AUTHORS: Lima, AC; Carvalho, F ; Goncalves, J; Fernandes, S; Marques, PI; Sousa, M ; Barros, A ; Seixas, S; Amorim, Antonio ; Conrad, DF; Lopes, AM;
PUBLISHED: 2015, SOURCE: ANDROLOGY, VOLUME: 3, ISSUE: 5
