MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

by Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, Taichi Imaizumi, Toshiyuki Yamamoto, Takanori Yamagata
Published 2021-02-01

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

by Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Taichi Imaizumi, Satoru Nagata, Toshiyuki Yamamoto
Published 2020-08-01