1.Diagnosis of neurometabolic disorders through next generation sequencing panels and bioinformatics tools: two years of experience

作　　者：Gouveia, Sofia ;Fernández-Marmiesse, Ana ;Otero, Iria 等

出　　处：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia. 2015 ;24:12-12.

出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto

文章 ID：115285129

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2.Recessive TTN truncating mutation define a novel antenatal severe form of "CAP-myopathy" in absence of heart disease

作　　者：Fernández-Marmiesse, Ana ;Carrascosa-Romero, M. Carmen ;Roca, Iria 等

出　　处：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia. 2015 ;24:15-15.

出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto

文章 ID：115285135

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3.Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies

作　　者：Gouveia, Sofia ;Fernández-Marmiesse, Ana ;Otero, Iria 等

出　　处：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia. 2015 ;24:15-15.

出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto

文章 ID：115285138

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4.Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

作　　者：Sousa-Santos, Francisco ;Simões, Helder ;Castro-Feijóo, Lidia 等

出　　处：Archives of Endocrinology and Metabolism. 2018 ;62(5):560-565.doi:10.20945/2359-3997000000077

出版社：Archives of Endocrinology and Metabolism

文章 ID：222257392

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