Mitsuko Nakashima
40PUBLICATIONS
124CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (40)
Sort by Publication Date:
|Mar 28, 2026
A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets.Hitoshi Kuwabara, Masaki Kojima, Seico Benner
|Aug 21, 2025
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.Kazuki Watanabe, Tatsuya Ema, Kenji Shimizu
|Jan 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndrome.Kazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama
|Dec 02, 2024
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.Kaori Yamoto, Kosuke Yamada, Kenji Shimizu
|Aug 09, 2024
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Shogo Furukawa, Mitsuhiro Kato, Akihiko Ishiyama
|Nov 22, 2023
A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima
Pageof 7
Frequent Collaborators
32 joint publications
Hirotomo Saitsu
10 joint publications
Mitsuhiro Kato
9 joint publications
Takuya Hiraide
8 joint publications
Sachiko Miyamoto
5 joint publications
Kazuki Watanabe
5 joint publications
Naomichi Matsumoto
5 joint publications
Tsutomu Ogata
3 joint publications
Takeshi Mizuguchi
3 joint publications
Hitoshi Osaka
3 joint publications
Kenji Shimizu
