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TITLE: Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy  Full Text
AUTHORS: Liliana Matos; Ana Joana Duarte; Diogo Ribeiro; Joao Chaves; Olga Amaral; Sandra Alves;
PUBLISHED: 2018, SOURCE: GENES, VOLUME: 9, ISSUE: 9
INDEXED IN: Scopus WOS
34
TITLE: Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations  Full Text
AUTHORS: Souad Ouesleti; Maria Francisca Coutinho; Isaura Ribeiro; Abdehedi Miled; Dalila Saidane Mosbahi; Sandra Alves;
PUBLISHED: 2017, SOURCE: WORLD JOURNAL OF PEDIATRICS, VOLUME: 13, ISSUE: 4
INDEXED IN: Scopus WOS
36
TITLE: Premedication with simethicone and N-acetylcysteine in improving visibility during upper endoscopy: a double-blind randomized trial
AUTHORS: Luis Elvas; Areia, M ; Daniel Brito; Susana Alves; Sandra Saraiva; Ana T Cadime;
PUBLISHED: 2017, SOURCE: ENDOSCOPY, VOLUME: 49, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 1
37
TITLE: Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders (vol 17, 1065, 2016)  Full Text
AUTHORS: Maria Francisca Coutinho; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2017, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
38
TITLE: Common coding variant in SERPINA1 increases the risk for large artery stroke
AUTHORS: Malik, R; Dau, T; Gonik, M; Sivakumar, A; Deredge, DJ; Edeleva, EV; Götzfried, J; Van Der Laan, SW; Pasterkamp, G; Beaufort, N; Seixas, S; Bevan, S; Lincz, LF; Holliday, EG; Burgess, AI; Rannikmäe, K; Minnerup, J; Kriebel, J; Waldenberger, M; Müller Nurasyid, M; Lichtner, P; Saleheen, D; Woo, D; Debette, S; Maguire, J; Cole, JW; Majersik, J; Jimenez Conde, J; Lee, JM; Rost, N; Pare, G; Jern, C; Lindgren, AG; Cardenas, IF; Rothwell, PM; Levi, C; Attia, J; Sudlow, CLM; Braun, D; Markus, HS; Wintrode, PL; Berger, K; Jenne, DE; Dichgans, M; ...More
PUBLISHED: 2017, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 114, ISSUE: 14
INDEXED IN: Scopus WOS
39
TITLE: Quality in Colonoscopy: Beyond the Adenoma Detection Rate Fever
AUTHORS: Taveira, F; Areia, M ; Elvas, L; Alves, S; Brito, D; Saraiva, S; Cadime, AT;
PUBLISHED: 2017, SOURCE: GE Portuguese Journal of Gastroenterology, VOLUME: 24, ISSUE: 5
INDEXED IN: Scopus CrossRef: 2
40
TITLE: Adaptive Evolution Favoring KLK4 Downregulation in East Asians
AUTHORS: Patricia Isabel Marques; Filipa Fonseca; Tania Sousa; Paulo Santos; Vania Camilo; Zelia Ferreira; Victor Quesada; Susana Seixas;
PUBLISHED: 2016, SOURCE: MOLECULAR BIOLOGY AND EVOLUTION, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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