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.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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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