Browsing by Author "Salinas, Valeria."

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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Salinas, Valeria.; Maturo, Josefina.; Amartino, Hernán.; Et al. (Elsevier, 2021-12)

Abstract Developmental and epileptic encephalopathies (DEE) are complex pediatric epilepsies, in which heterogeneous pathogenic factors play an important role. Next-generation-sequencing based tools have shown excellent ...
The odyssey of complex neurogenetic disorders: From undetermined to positive.

Salinas, Valeria.; Pérez-Maturo, Josefina.; Amartino, Hernán.; Et al. (Wiley, 2020-12)

Abstract The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease ...