Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

Por María José de Castro, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Enrique Salguero, Segundo Rite, Olalla López-Suárez, Alejandro Pérez-Muñuzuri, María-Luz Couce
Publicado em 2020-07-01

Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Por Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce
Publicado em 2019-08-01