Noriko Miyake
31PUBLICATIONS
90CO-AUTHORS
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Publications (31)
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|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
|Jun 28, 2021
De novo pathogenic DHX30 variants in two cases.Noriko Miyake, Chong Ae Kim, Kazuhiro Haginoya
|May 07, 2021
COG1-congenital disorders of glycosylation: Milder presentation and review.Marne Salazar, Noriko Miyake, Sebastián Silva
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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
