1. 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome. Issue 6 (1st May 2013) Authors: Okamoto, Nobuhiko; Ohmachi, Kazumi; Shimada, Shino; Shimojima, Keiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. (17th May 2017) Authors: Shimojima, Keiko; Okamoto, Nobuhiko; Yamamoto, Toshiyuki Journal: Congenital anomalies Issue: Volume 58:Number 1(2018) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. (November 2016) Authors: Yamamoto, Toshiyuki; Shimojima, Keiko; Yamazaki, Sawako; Ikeno, Kanju; Tohyama, Jun Journal: Congenital anomalies Issue: Volume 56:Number 6(2016) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A case of chromoblastomycosis caused by Fonsecaea pedrosoi in a patient with rheumatoid arthritis. (7th October 2014) Authors: Ohashi, Takenobu; Ohtsuka, Mikio; Kikuchi, Nobuyuki; Nishiyama, Kyoko; Suzutani, Tatsuo; Yamamoto, Toshiyuki Journal: International journal of rheumatic diseases Issue: Volume 18:Number 5(2015) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Issue 8 (23rd June 2019) Authors: Miyamoto, Sachiko; Nakashima, Mitsuko; Ohashi, Tsukasa; Hiraide, Takuya; Kurosawa, Kenji; Yamamoto, Toshiyuki; Takanashi, Junichi; Osaka, Hitoshi; Inoue, Ken; Miyazaki, Takehiro; Wada, Yoshinao; Okamoto, Nobuhiko; Saitsu, Hirotomo Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting. Issue 3 (September 2021) Authors: Abe, Takuro; Sato, Kayoko; Sekiguchi, Haruki; Nakao, Masashi; Im, Jihaeng; Sakai, Akiko; Yamamoto, Toshiyuki; Shoda, Morio; Hagiwara, Nobuhisa Journal: Journal of cardiology cases Issue: Volume 24:Issue 3(2021) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A case of severe erythrodermic psoriasis associated with IgA nephropathy. (December 2013) Authors: Nakamura‐Wakatsuki, Taeko; Kato, Yasunobu; Sakurai, Kaoru; Yamamoto, Toshiyuki Journal: International journal of dermatology Issue: Volume 52:Number 12(2013:Dec.) Page Start: 1579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A comparative performance of machine learning algorithm to predict electric vehicles energy consumption: A path towards sustainability. Issue 8 (December 2022) Authors: Ullah, Irfan; Liu, Kai; Yamamoto, Toshiyuki; Al Mamlook, Rabia Emhamed; Jamal, Arshad Journal: Energy & environment Issue: Volume 33:Issue 8(2022) Page Start: 1583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity12. Issue 4 (12th March 2013) Authors: Shichiji, Minobu; Ito, Yasushi; Shimojima, Keiko; Nakamu, Hidetsugu; Oguni, Hirokazu; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report. Issue 2 (31st August 2021) Authors: Sakaue, Taka‐aki; Obata, Yoshinari; Fujishima, Yuya; Kozawa, Junji; Otsuki, Michio; Yamamoto, Toshiyuki; Maeda, Norikazu; Nishizawa, Hitoshi; Shimomura, Iichiro Journal: Journal of diabetes investigation Issue: Volume 13:Issue 2(2022) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗