Susana Alves Seixas
AuthID: R-000-GTS
61
TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
62
TITLE: Alpha-1 antitrypsin deficiency caused by a novel mutation (p.Leu263Pro): Pi(star)ZQ0gaia-Q0gaia allele
AUTHORS: Oliveira, MJ; Seixas, S; Ladeira, I; Monteiro, R; Shiang, T; Guimaraes, M; Lima, R;
PUBLISHED: 2015, SOURCE: REVISTA PORTUGUESA DE PNEUMOLOGIA, VOLUME: 21, ISSUE: 6
AUTHORS: Oliveira, MJ; Seixas, S; Ladeira, I; Monteiro, R; Shiang, T; Guimaraes, M; Lima, R;
PUBLISHED: 2015, SOURCE: REVISTA PORTUGUESA DE PNEUMOLOGIA, VOLUME: 21, ISSUE: 6
63
TITLE: The human SERPIN repertoire and the evolution of 14q32.1 and 18q21.3 gene clusters
AUTHORS: Seixas, S;
PUBLISHED: 2015, SOURCE: The Serpin Family: Proteins with Multiple Functions in Health and Disease
AUTHORS: Seixas, S;
PUBLISHED: 2015, SOURCE: The Serpin Family: Proteins with Multiple Functions in Health and Disease
64
TITLE: Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity (vol 5, pg 2512, 2013) Full Text
AUTHORS: Zelia Ferreira; Belen Hurle; Aida M Andres; Warren W Kretzschmar; James C Mullikin; Praveen F Cherukuri; Pedro Cruz; Katie E Hyma; Mary Katherine Gonder; Anne C Stone; Sarah Tishkoff; Willie J Swanson; Eric D Green; Andrew G Clark; Susana Seixas;
PUBLISHED: 2014, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 6, ISSUE: 2
AUTHORS: Zelia Ferreira; Belen Hurle; Aida M Andres; Warren W Kretzschmar; James C Mullikin; Praveen F Cherukuri; Pedro Cruz; Katie E Hyma; Mary Katherine Gonder; Anne C Stone; Sarah Tishkoff; Willie J Swanson; Eric D Green; Andrew G Clark; Susana Seixas;
PUBLISHED: 2014, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 6, ISSUE: 2
65
TITLE: Adaptive Evolution and Divergence of SERPINB3: A Young Duplicate in Great Apes Full Text
AUTHORS: Silvia Gomes; Patricia I Marques; Rune Matthiesen; Susana Seixas;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 8
AUTHORS: Silvia Gomes; Patricia I Marques; Rune Matthiesen; Susana Seixas;
PUBLISHED: 2014, SOURCE: PLOS ONE, VOLUME: 9, ISSUE: 8
IN MY: 
ORCID | 
ResearcherID
ORCID | ResearcherID66
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
67
TITLE: Sequence Diversity of Pan troglodytes Subspecies and the Impact of WFDC6 Selective Constraints in Reproductive Immunity Full Text
AUTHORS: Ferreira, Z; Hurle, B; Andres, AM; Kretzschmar, WW; Mullikin, JC; Cherukuri, PF; Cruz, P; Gonder, MK; Stone, AC; Tishkoff, S; Swanson, WJ; Green, ED; Clark, AG; Seixas, S;
PUBLISHED: 2013, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 5, ISSUE: 12
AUTHORS: Ferreira, Z; Hurle, B; Andres, AM; Kretzschmar, WW; Mullikin, JC; Cherukuri, PF; Cruz, P; Gonder, MK; Stone, AC; Tishkoff, S; Swanson, WJ; Green, ED; Clark, AG; Seixas, S;
PUBLISHED: 2013, SOURCE: GENOME BIOLOGY AND EVOLUTION, VOLUME: 5, ISSUE: 12
IN MY: ORCID | ResearcherID
ORCID | ResearcherID68
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
69
TITLE: Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients Full Text
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
70
TITLE: Glycosaminoglycan storage disorders: A review Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
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