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Diagnosis of neurometabolic disorders through next generation sequencing panels...
Gouveia,Sofia; Fernández-Marmiesse,Ana; Otero,Iria; Cocho,Juan; Castiñeiras,Daisy; Fraga,José; Couce,Mª Luz
Date: 2015
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Origin: SciELO Portugal
Recessive TTN truncating mutation define a novel antenatal severe form of CAP-...
Fernández-Marmiesse,Ana; Carrascosa-Romero,M. Carmen; Roca,Iria; Gouveia,Sofia; Pico,Mª Luz Couce
Date: 2015
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Origin: SciELO Portugal
Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies
Gouveia,Sofia; Fernández-Marmiesse,Ana; Otero,Iria; Cocho,Juan; Castiñeiras,Daisy; Fraga,José; Couce,Mª Luz
Date: 2015
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Origin: SciELO Portugal