Suggestions

Du même auteur

Genetics of Hirschsprung disease. Génétique de la maladie de Hirschsprung

Archive ouverte | Le, Thuy-Linh | CCSD

Hirschsprung disease (HSCR) is a developmental defect of the enteric nervous system, characterized by the absence of enteric ganglion cells in the myenteric and submucosal neuronal plexi in the distal part of human intestine. The ...

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

Archive ouverte | de Coo, Irenaeus F.M. | CCSD

International audience. Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like ...

Operative list of genes associated with autism and neurodevelopmental disorders based on database review

Archive ouverte | Leblond, Claire, S. | CCSD

International audience. The genetics of neurodevelopmental disorders (NDD) has made tremendous progress during the last few decades with the identification of more than 1,500 genes associated with conditions such as...

Chargement des enrichissements...