Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation

por Mori, Jun, Hasegawa, Tatsuji, Miyamoto, Yosuke, Kitamura, Kazumasa, Morimoto, Hidechika, Tozawa, Takenori, Pooh, Ritsuko Kimata, Chiyonobu, Tomohiro
Publicado 2022

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation

por Pooh, Ritsuko Kimata, Machida, Megumi, Imoto, Issei, Arai, Eri Noel, Ohashi, Hiroyasu, Takeda, Masayoshi, Shimokawa, Osamu, Fukuta, Kaori, Shiozaki, Arihiro, Saito, Shigeru, Chiyo, Hideaki
Publicado 2021

Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)

por Pooh, Ritsuko Kimata, Masuda, Chika, Matsushika, Risa, Machida, Megumi, Nakamura, Takako, Takeda, Masayoshi, Ohashi, Hiroyasu, Kumagai, Mami, Uenishi, Kohtaro, Roos, Fredrik, Persson, Fredrik, Shimokawa, Osamu
Publicado 2021