Marie Ducloy
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View article: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome Open
View article: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
A framework to identify contributing genes in patients with Phelan-McDermid syndrome Open
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed speech, and autism spectrum disorders (ASD). It results fro…
View article: A framework to identify modifier genes in patients with Phelan-McDermid syndrome
A framework to identify modifier genes in patients with Phelan-McDermid syndrome Open
Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with heterogeneous degrees of severity, including intellectual disability, speech impairment, and autism spectrum disorders (ASD). It results from a deletion…
View article: Aspects cliniques et génétiques des Troubles du Spectre Autistique : familles multiplexes et anomalies des Neuroligines
Aspects cliniques et génétiques des Troubles du Spectre Autistique : familles multiplexes et anomalies des Neuroligines Open
Autism Spectrum Disorder is a neurodeveloppemental disease with an estimated prevalence of 1% and an unequal sexratio (1 girl for 4 boys in typical autism). Patients exhibit social communication difficulties, restrictive interests, stereot…