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FERNANDEZ-MARMIESSE, ANA [Author]
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Gouveia, Sofia et al.
Utility of genetic panels based on ngs in the diagnosis of childhood epilepsies
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Nascer e Crescer
, Feb 2015, vol.24, suppl.1, p.15-15. ISSN 0872-0754
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Fernández-Marmiesse, Ana et al.
Recessive TTN truncating mutation define a novel antenatal severe form of “CAP-myopathy” in absence of heart disease
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Nascer e Crescer
, Feb 2015, vol.24, suppl.1, p.15-15. ISSN 0872-0754
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Gouveia, Sofia et al.
Diagnosis of neurometabolic disorders through next generation sequencing panels and bioinformatics tools
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two years of experience
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Nascer e Crescer
, Feb 2015, vol.24, suppl.1, p.12-12. ISSN 0872-0754
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