Hiroaki Murakami
9PUBLICATIONS
13CO-AUTHORS
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Publications (9)
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|Feb 23, 2025
Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.Yumi Enomoto, Takashi Shiromizu, Sakyo Yasojima
|Nov 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki
|Dec 21, 2020
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.Hiroaki Murakami, Norito Tamura, Yumi Enomoto
|Oct 16, 2020
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.Naoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami
|Aug 18, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto
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Frequent Collaborators
9 joint publications
Kenji Kurosawa
3 joint publications
Naoto Nishimura
2 joint publications
Yumi Enomoto
2 joint publications
Yoshinori Tsurusaki
1 joint publications
Yukiko Kuroda
1 joint publications
Takayuki Yokoi
1 joint publications
Mari Minatogawa
1 joint publications
Tadashi Kaname
1 joint publications
Kentaro Hanada
1 joint publications
Satomi Mori
