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Barbosa-Gouveia, Sofia
377  Ergebnisse:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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