D. Quelhas
AuthID: R-00F-Z7K
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TITLE: Improving the in silico assessment of pathogenicity for compensated variants
AUTHORS: Luisa Azevedo ; Matthew Mort; Antonio C Costa; Raquel M Silva; Dulce Quelhas; Amorim, Antonio ; David N Cooper;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 1
AUTHORS: Luisa Azevedo ; Matthew Mort; Antonio C Costa; Raquel M Silva; Dulce Quelhas; Amorim, Antonio ; David N Cooper;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 1
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TITLE: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
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TITLE: MAN1B1 Deficiency: An Unexpected CDG-II Full Text
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
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TITLE: Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome Full Text
AUTHORS: Julio C Rocha ; Francjan J van Spronsen; Manuela F Almeida; Gabriela Soares; Dulce Quelhas; Elisabete Ramos ; Joao T Guimaraes ; Nuno Borges ;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 4
AUTHORS: Julio C Rocha ; Francjan J van Spronsen; Manuela F Almeida; Gabriela Soares; Dulce Quelhas; Elisabete Ramos ; Joao T Guimaraes ; Nuno Borges ;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 4
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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
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TITLE: Quantitative analysis of five sterols in amniotic fluid by GC-MS: Application to the diagnosis of cholesterol biosynthesis defects Full Text
AUTHORS: Amaral, C; Gallardo, E; Rodrigues, R; Pinto P Leite; Quelhas, D; Tomaz, C ; Cardoso, ML;
PUBLISHED: 2010, SOURCE: JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, VOLUME: 878, ISSUE: 23
AUTHORS: Amaral, C; Gallardo, E; Rodrigues, R; Pinto P Leite; Quelhas, D; Tomaz, C ; Cardoso, ML;
PUBLISHED: 2010, SOURCE: JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, VOLUME: 878, ISSUE: 23
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TITLE: Golgi function and dysfunction in the first COG4-deficient CDG type II patient
AUTHORS: Ellen Reynders; Francois Foulquier; Elisa Leao Teles; Dulce Quelhas; Willy Morelle; Catherine Rabouille; Wim Annaert; Gert Matthijs;
PUBLISHED: 2009, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 18, ISSUE: 17
AUTHORS: Ellen Reynders; Francois Foulquier; Elisa Leao Teles; Dulce Quelhas; Willy Morelle; Catherine Rabouille; Wim Annaert; Gert Matthijs;
PUBLISHED: 2009, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 18, ISSUE: 17
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TITLE: Congenital disorder of glycosylation type Ia: Searching for the origin of common mutations in PMM2. Origin(s) of PMM2 Gene Mutations Full Text
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
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TITLE: Prenatal diagnosis for CDG 1a based on post-mortem molecular study of Guthrie card Full Text
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
AUTHORS: Nogueira, C; Quelhas, D; Vilarinho, L;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 87, ISSUE: 4
