Showing 1 - 8 results of 8 for search 'Sofía Barbosa-Gouveia', query time: 0.02s
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Proteomics in Inherited Metabolic Disorders by Maria del Pilar Chantada-Vázquez, Susana B. Bravo, Sofía Barbosa-Gouveia, José V. Alvarez, María L. Couce
Published 2022-11-01
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Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease by María José de Castro, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Enrique Salguero, Segundo Rite, Olalla López-Suárez, Alejandro Pérez-Muñuzuri, María-Luz Couce
Published 2020-07-01
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Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL by Sofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida, María Unceta Suarez, María Jesús Martínez-González, Filipa Borges, Liesbeth Wintjes, Antonia Kappen, Richard Rodenburg, María-Luz Couce
Published 2020-09-01
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Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center by Sofia Barbosa-Gouveia, María E. Vázquez-Mosquera, Emiliano González-Vioque, José V. Álvarez, Roi Chans, Francisco Laranjeira, Esmeralda Martins, Ana Cristina Ferreira, Alejandro Avila-Alvarez, María L. Couce
Published 2021-08-01
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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome by Sofia Barbosa-Gouveia, Maria E. Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L. Valverde, Judith Armstrong-Moron, Maria del Carmen Fons-Estupiña, Liesbeth T. Wintjes, Antonia Kappen, Richard J. Rodenburg, Maria L. Couce
Published 2021-12-01
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies by Sofia 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
Published 2022-05-01
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