Noriko Miyake
31PUBLICATIONS
90CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (31)
Sort by Publication Date:
|Jan 07, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.Sebastián Silva, Viviana Venegas, Marcela Valenzuela
|Oct 10, 2023
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.Eriko Nishi, Noriko Miyake, Rie Kawamura
|Mar 28, 2022
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.Toshiyuki Itai, Zheng Wang, Gen Nishimura
|Sep 24, 2021
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.Mari Minatogawa, Noriko Miyake, Yoshinori Tsukahara
|May 07, 2021
COG1-congenital disorders of glycosylation: Milder presentation and review.Marne Salazar, Noriko Miyake, Sebastián Silva
|Mar 01, 2021
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.Rachel Sayuri Honjo, Matheus Augusto Araújo Castro, Suely Fazio Ferraciolli
Pageof 6
Frequent Collaborators
7 joint publications
Naomichi Matsumoto
6 joint publications
Naomi Tsuchida
4 joint publications
Yuri Uchiyama
4 joint publications
Eri Imagawa
4 joint publications
Nobuhiko Okamoto
3 joint publications
Toshiyuki Itai
3 joint publications
Kohei Hamanaka
3 joint publications
Hiroshi Doi
2 joint publications
Ken Saida
2 joint publications
Kazuhiro Iwama
