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Barbosa-Gouveia, Sofia
375
results:
Search for persons
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Online (375)
Mediatypes
Articles (Online) (319)
Bookchapter (Online) (16)
OpenAccess-fulltext (38)
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1
A newborn Screening Programme for Inborn errors of metaboli..:
Couce, María L.
;
Bóveda, María-Dolores
;
Castiñeiras, Daisy E.
...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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2
Assessing the relationship between lipoprotein(a) levels an..:
Vazquez-Agra, Nestor
;
Cruces-Sande, Anton
;
Barbosa-Gouveia, Sofia
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
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3
Characterization of the plasma proteomic profile of Fabry d..:
López-Valverde, Laura
;
Vázquez-Mosquera, María E.
;
Colón-Mejeras, Cristóbal
...
Translational Research. 269 (2024) - p. 47-63 , 2024
Link:
https://doi.org/10.1016/..
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4
Association of a Novel Homozygous Variant in ABCA1 Gene wit..:
Barbosa-Gouveia, Sofía
;
Fernández-Crespo, Silvia
;
Lazaré-Iglesias, Héctor
...
Journal of Clinical Medicine. 12 (2023) 7 - p. 2596 , 2023
Link:
https://doi.org/10.3390/..
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5
The correlation of lipid profile and waist circumference wi..:
Vazquez-Agra, Nestor
;
Fernandez-Crespo, Silvia
;
Marques-Afonso, Ana-Teresa
...
Medicina Clínica (English Edition). 160 (2023) 9 - p. 385-391 , 2023
Link:
https://doi.org/10.1016/..
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6
Rapid Molecular Diagnosis of Genetically Inherited Neuromus..:
Barbosa-Gouveia, Sofia
;
Vázquez-Mosquera, Maria Eugenia
;
González-Vioque, Emiliano
...
Journal of Clinical Medicine. 11 (2022) 10 - p. 2750 , 2022
Link:
https://doi.org/10.3390/..
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7
Proteomics in Inherited Metabolic Disorders:
Chantada-Vázquez, Maria del Pilar
;
Bravo, Susana B.
;
Barbosa-Gouveia, Sofía
..
International Journal of Molecular Sciences. 23 (2022) 23 - p. 14744 , 2022
Link:
https://doi.org/10.3390/..
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8
Transcriptomic analysis of patients with clinical suspicion..:
Vázquez-Mosquera, María E.
;
González-Vioque, Emiliano
;
Barbosa-Gouveia, Sofía
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
9
Utility of Gene Panels for the Diagnosis of Inborn Errors o..:
Barbosa-Gouveia, Sofia
;
Vázquez-Mosquera, María E.
;
González-Vioque, Emiliano
...
Genes. 12 (2021) 8 - p. 1262 , 2021
Link:
https://doi.org/10.3390/..
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10
Case Report: Diffuse Polymicrogyria Associated With a Novel..:
Carneiro, Fábio
;
Duarte, Júlia
;
Laranjeira, Francisco
...
Frontiers in Pediatrics. 9 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
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11
Characterization of a Novel Splicing Variant in Acylglycero..:
Barbosa-Gouveia, Sofia
;
Vázquez-Mosquera, Maria E.
;
Gonzalez-Vioque, Emiliano
...
International Journal of Molecular Sciences. 22 (2021) 24 - p. 13484 , 2021
Link:
https://doi.org/10.3390/..
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12
Plasma Proteomic Analysis in Morquio A Disease:
Álvarez, José V.
;
Bravo, Susana B.
;
Chantada-Vázquez, María Pilar
...
International Journal of Molecular Sciences. 22 (2021) 11 - p. 6165 , 2021
Link:
https://doi.org/10.3390/..
?
13
Identification of a Novel Variant in EARS2 Associated with ..:
Barbosa-Gouveia, Sofia
;
González-Vioque, Emiliano
;
Hermida, Álvaro
...
Genes. 11 (2020) 9 - p. 1028 , 2020
Link:
https://doi.org/10.3390/..
?
14
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Pane..:
de Castro, María José
;
González-Vioque, Emiliano
;
Barbosa-Gouveia, Sofía
...
Journal of Clinical Medicine. 9 (2020) 8 - p. 2362 , 2020
Link:
https://doi.org/10.3390/..
?
15
Identification and Characterization of New Variants in FOXR..:
Barbosa-Gouveia, Sofia
;
González-Vioque, Emiliano
;
Borges, Filipa
...
Journal of Clinical Medicine. 8 (2019) 8 - p. 1262 , 2019
Link:
https://doi.org/10.3390/..
1-15