Résultats de la recherche

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Fetal whole exome sequencing identifies mutations in the ERCC2(XPD) gene associated with severe congenital ichthyosis and dysmorphic features.
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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