Yasutsugu Chinen

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 4

Top Topics

High Throughput Sequencing

Peritoneal Dialysis

Hypertrophic Cardiomyopathy

Top Venues

Human genome variation

American journal of medical genetics. Part A

Clinical case reports

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

Publications

Yasutsugu Chinen, Sadao Nakamura, Kumiko Yanagi, Takuya Kaneshi, Hideki Goya, Tomohide Yoshida, Kazuhito Satou, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI. Human genome variation 9 (1) (2022)
Yasutsugu Chinen, Sadao Nakamura, Takuya Kaneshi, Mami Nakayashiro, Kumiko Yanagi, Tadashi Kaname, Kenji Naritomi, Koichi Nakanishi
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Human genome variation 6 (2019)
Akira Ganaha, Tadashi Kaname, Ayano Shinjou, Yasutsugu Chinen, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Mikio Suzuki
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease. American journal of medical genetics. Part A 173 (10) (2017)
Yasutsugu Chinen, Sadao Nakamura, Akira Ganaha, Shin Hayashi, Johji Inazawa, Kumiko Yanagi, Koichi Nakanishi, Tadashi Kaname, Kenji Naritomi
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3. Clinical case reports 6 (2) (2017)