1. A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations. Issue 2 (February 2018) Authors: Borges-Medeiros, Rayssa; Mendes de Oliveira, João Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop. Issue 11 (November 2018) Authors: Yamamoto, Kayono; Shimizu, Atsushi; Aizawa, Fumie; Kawame, Hiroshi; Tokutomi, Tomoharu; Fukushima, Akimune Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in SLC1A3 causes episodic ataxia. Issue 2 (February 2018) Authors: Iwama, Kazuhiro; Iwata, Aya; Shiina, Masaaki; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Ito, Shuichi; Mizuguchi, Takeshi; Matsumoto, Naomichi Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. Issue 12 (December 2018) Authors: Lou, Xiaoting; Shi, Hao; Wen, Shumeng; Li, Yuanyuan; Wei, Xiujuan; Xie, Jie; Ma, Lin; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. Issue 12 (December 2018) Authors: Lou, Xiaoting; Shi, Hao; Wen, Shumeng; Li, Yuanyuan; Wei, Xiujuan; Xie, Jie; Ma, Lin; Yang, Yanling; Fang, Hezhi; Lyu, Jianxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A novel SNP in promoter region of RP11-3N2.1 is associated with reduced risk of colorectal cancer. Issue 1 (January 2018) Authors: Ye, Ding; Hu, Yunqing; Jing, Fangyuan; Li, Yingjun; Gu, Simeng; Jiang, Xiyi; Mao, Yingying; Li, Qilong; Jin, Mingjuan; Chen, Kun Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 47 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. Issue 12 (December 2018) Authors: Takagi, Masaki; Shimomura, Satoshi; Fukuzawa, Ryuji; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Tomonobu Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. Issue 12 (December 2018) Authors: Miyagawa, Taku; Khor, Seik-Soon; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Hig... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. Issue 12 (December 2018) Authors: Miyagawa, Taku; Khor, Seik-Soon; Toyoda, Hiromi; Kanbayashi, Takashi; Imanishi, Aya; Sagawa, Yohei; Kotorii, Nozomu; Kotorii, Tatayu; Ariyoshi, Yu; Hashizume, Yuji; Ogi, Kimihiro; Hiejima, Hiroshi; Kamei, Yuichi; Hida, Akiko; Miyamoto, Masayuki; Ikegami, Azusa; Wada, Yamato; Takami, Masanori; Hig... Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1259 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗