61
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
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63
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
INDEXED IN: Scopus WOS CrossRef: 17
64
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
INDEXED IN: Scopus WOS CrossRef
65
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
INDEXED IN: Scopus WOS CrossRef: 10
66
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
INDEXED IN: Scopus WOS CrossRef
67
TITLE: Glycosaminoglycan storage disorders: A review  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Alves, S;
PUBLISHED: 2012, SOURCE: Biochemistry Research International, VOLUME: 2012
INDEXED IN: Scopus CrossRef
68
TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity  Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
69
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations  Full Text
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
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70
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 13
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