Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation
Mori, Jun, Hasegawa, Tatsuji, Miyamoto, Yosuke, Kitamura, Kazumasa, Morimoto, Hidechika, Tozawa, Takenori, Pooh, Ritsuko Kimata, Chiyonobu, Tomohiro
Published in Human genome variation (03.06.2022)
Published in Human genome variation (03.06.2022)
Get full text
Journal Article
D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism
Shimokawa, Osamu, Takeda, Masayoshi, Ohashi, Hiroyasu, Shono-Ota, Akemi, Kumagai, Mami, Matsushika, Risa, Masuda, Chika, Uenishi, Kohtaro, Kimata Pooh, Ritsuko
Published in Diagnostics (Basel) (18.02.2021)
Published in Diagnostics (Basel) (18.02.2021)
Get full text
Journal Article
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation
Pooh, Ritsuko Kimata, Machida, Megumi, Imoto, Issei, Arai, Eri Noel, Ohashi, Hiroyasu, Takeda, Masayoshi, Shimokawa, Osamu, Fukuta, Kaori, Shiozaki, Arihiro, Saito, Shigeru, Chiyo, Hideaki
Published in Genes (02.03.2021)
Published in Genes (02.03.2021)
Get full text
Journal Article
Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)
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
Published in Diagnostics (Basel) (04.10.2021)
Published in Diagnostics (Basel) (04.10.2021)
Get full text
Journal Article
First trimester serum markers stability during sample transportation from the obstetrical site to the screening laboratory
Sahota, Daljit Singh, Pooh, Ritsuko Kimata, Choy, Kwong Wai, Leung, Tak Yeung, Lau, Tze Kin
Published in The journal of maternal-fetal & neonatal medicine (01.07.2012)
Published in The journal of maternal-fetal & neonatal medicine (01.07.2012)
Get more information
Journal Article
Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation
Pooh, Ritsuko Kimata, Machida, Megumi, Imoto, Issei, Arai, Eri Noel, Ohashi, Hiroyasu, Takeda, Masayoshi, Shimokawa, Osamu, Fukuta, Kaori, Shiozaki, Arihiro, Saito, Shigeru, Chiyo, Hideaki
Published in Genes (02.03.2021)
Published in Genes (02.03.2021)
Get full text
Report