Résultats de la recherche

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes
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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