A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephalyYutaka Negishi, Shinji Saitoh, Motoo Nakagawa et al.|BMC Medical Genetics|2017Cited by 29
Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1Hiroyuki Suzuki, Takuji Torimura, Teruko Arinaga‐Hino et al.|Frontiers in Medicine|2022Cited by 13