Afficher la couverture 'New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics | Begemann, Anaïs' en grand format
/5

0 avis

Consulter en ligne

Suggestions

Du même auteur

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Archive ouverte | Begemann, Anaïs | CCSD

International audience. Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures,...

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Archive ouverte | Gregor, Anne | CCSD

International audience. Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for gene...

Monogenic variants in dystonia: an exome-wide sequencing study

Archive ouverte | Zech, Michael | CCSD

International audience

Chargement des enrichissements...