Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report

por Tian, Maoqiang, Chen, Jing, Li, Juan, Pan, Hong, Lei, Wenting, Shu, Xiaomei
Publicado 2022

Calcium/Calmodulin-dependent Serine Protein Kinase-associated Neuro-gastrointestinal Disorder: First Report of a Patient With Hirschsprung‘s Disease

por Tian, Maoqiang, Pan, Hong, Lei, Wenting, Chen, Jing, Li, Juan, Lang, Changhui, Shu, Xiaomei
Publicado 2020