Sofía Barbosa-Gouveia (Sofia Barbosa-Gouveia)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 9

Top Venues

International journal of molecular sciences

Journal of clinical medicine

Genes

Instituto de Investigación Sanitaria de Santiago

Universidade de Santiago de Compostela Facultade de Medicina e Odontoloxía (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Instituto de Investigación Sanitaria de Santiago

Spain

Clinical Geneticist :: Pediatria

Education History

Universidade de Santiago de Compostela Facultade de Medicina e Odontoloxía

Spain

PHD :: Pediatria

Publications

Sofía Barbosa-Gouveia, Silvia Fernández-Crespo, Héctor Lazaré-Iglesias, Arturo González-Quintela, Néstor Vázquez-Agra, Álvaro Hermida-Ameijeiras
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease. Journal of clinical medicine 12 (7) (2023)
Sofía Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, Álvaro Hermida-Ameijeiras, Paula Sánchez-Pintos, Maria José de Castro, Soraya Ramiro León, Belén Gil-Fournier, Cristina Domínguez-González, Ana Camacho Salas, Luis Negrão, Isabel Fineza, Francisco Laranjeira, Maria-Luz Couce
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. Journal of clinical medicine 11 (10) (2022)
Maria Del Pilar Chantada-Vazquez, Susana Belén Bravo, Sofía Barbosa-Gouveia, José V Álvarez, Maria-Luz Couce
Proteomics in Inherited Metabolic Disorders. International journal of molecular sciences 23 (23) (2022)
Maria Del Pilar Chantada-Vazquez, Susana Belén Bravo, Sofía Barbosa-Gouveia, José V Álvarez, Maria-Luz Couce
Proteomics in Inherited Metabolic Disorders. International journal of molecular sciences 23 (23) (2022)
Maria Del Pilar Chantada-Vazquez, Susana Belén Bravo, Sofía Barbosa-Gouveia, José V Álvarez, Maria-Luz Couce
Proteomics in Inherited Metabolic Disorders. International journal of molecular sciences 23 (23) (2022)
Maria Del Pilar Chantada-Vazquez, Susana Belén Bravo, Sofía Barbosa-Gouveia, José V Álvarez, Maria-Luz Couce
Proteomics in Inherited Metabolic Disorders. International journal of molecular sciences 23 (23) (2022)
Sofía Barbosa-Gouveia, María E Vázquez-Mosquera, Emiliano González-Vioque, José V Álvarez, Roi Chans, Francisco Laranjeira, Esmeralda Martins, Ana Cristina Ferreira, Alejandro Avila-Alvarez, Maria-Luz Couce
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center. Genes 12 (8) (2021)
Sofía Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L Valverde, Judith Armstrong, Maria Del Carmen Fons-Estupiña, Liesbeth T M Wintjes, Antonia Kappen, Richard J T Rodenburg, Maria-Luz Couce
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. International journal of molecular sciences 22 (24) (2021)
Sofía Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, María Unceta Suarez, María Jesús Martínez-González, Filipa Borges, Liesbeth Wintjes, Antonia Kappen, Richard J T Rodenburg, Maria-Luz Couce
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. Genes 11 (9) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Sofía Barbosa-Gouveia (Sofia Barbosa-Gouveia)