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Ana Rita Alcântara Gonçalves

AuthID: R-000-1GM

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Confirmed Publications: 45

11

TITLE: Extending genetic analysis of hereditary myopathies beyond next-generation targeted and exome sequencing Full Text
AUTHORS: Ana Goncalves ; Manuela Santos; Ana Fortuna; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Johan T Den Dunnen; Mario Sousa; Rosario Santos; Jorge Oliveira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26

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12

TITLE: Protective role of N-acetylcysteine (NAC) on human sperm exposed to etoposide
AUTHORS: Joao Baetas; Ana Rabaca; Ana Goncalves ; Alberto Barros ; Mario Sousa ; Rosalia Sa ;
PUBLISHED: 2019, SOURCE: BASIC AND CLINICAL ANDROLOGY, VOLUME: 29, ISSUE: 1

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13

TITLE: Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies Full Text
AUTHORS: Jorge, P; Garcia, E; Goncalves, A ; Marques, I; Maia, N; Rodrigues, B; Santos, H; Fonseca, J ; Soares, G; Correia, C; Reis Lima, M; Cirigliano, V; Santos, R;
PUBLISHED: 2018, SOURCE: BMC MEDICAL GENETICS, VOLUME: 19, ISSUE: 1

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14

TITLE: LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes Full Text
AUTHORS: Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Goncalves, A ; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, AP; Vieira, JP; Lourenco, T; Almendra, L; Negrao, L; Santos, M; Melo Pires, M; Coelho, T; den Dunnen, JT; Santos, R; Sousa, M ; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 10

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15

TITLE: Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene Full Text
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10

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16

TITLE: Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene Full Text
AUTHORS: Ana Goncalves ; Jorge Oliveira; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Mario Sousa; Rosario Santos;
PUBLISHED: 2017, SOURCE: GENES, VOLUME: 8, ISSUE: 10

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17

TITLE: New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
AUTHORS: Jorge Oliveira; Ana Goncalves ; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6

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18

TITLE: New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6

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19

TITLE: Utilization of carbon isotope enrichments (delta C-13) of alkanes as faecal markers to estimate diet composition of goats fed with heathland vegetation Full Text
AUTHORS: Ferreira, LMM ; Daniel, JB; Celaya, R; Santos, AS ; Osoro, K; Rodrigues, MAM ; Pellikaan, WF;
PUBLISHED: 2014, SOURCE: ANIMAL FEED SCIENCE AND TECHNOLOGY, VOLUME: 191

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20

TITLE: Effect of nitrogen sources on in vitro fermentation profiles and microbial yield using equine caecal contents Full Text
AUTHORS: Santos, AS ; Ferreira, LMM ; Martin Rosset, W; Cone, JW; Bessa, RJB ; Rodrigues, MAM ;
PUBLISHED: 2013, SOURCE: ANIMAL FEED SCIENCE AND TECHNOLOGY, VOLUME: 182, ISSUE: 1-4

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