Yuichi Kimura

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 5

Top Topics

Intellectual Disability

Toll Like Receptor

Top Venues

Human genome variation

Congenital anomalies

This page only lists publications with an associated author ORCID identifier.

Publications

Yukiko Kuroda, Yuichi Kimura, Tomoko Uehara, Kenjiro Kosaki, Kenji Kurosawa
Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability. Congenital anomalies (2019)
Hiroaki Murakami, Yuichi Kimura, Yumi Enomoto, Yoshinori Tsurusaki, Moe Akahira-Azuma, Yukiko Kuroda, Megumi Tsuji, Tomohide Goto, Kenji Kurosawa
Discordant phenotype caused by CASK mutation in siblings with NF1. Human genome variation 6 (2019)
Yoshinori Tsurusaki, Yukiko Kuroda, Yasuko Yamanouchi, Eisuke Kondo, Kazunobu Ouchi, Yuichi Kimura, Yumi Enomoto, Noriko Aida, Mitsuo Masuno, Kenji Kurosawa
Novel USP9X variants in two patients with X-linked intellectual disability. Human genome variation 6 (2019)
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. Congenital anomalies 58 (6) (2018)
Yota Sato, Jun Shibasaki, Noriko Aida, Kazuya Hiiragi, Yuichi Kimura, Moe Akahira-Azuma, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly. Human genome variation 5 (2018)