41. Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. Issue 1 (January 2018) Authors: Zeng, Qi; Yang, Xiaoling; Zhang, Jing; Liu, Aijie; Yang, Zhixian; Liu, Xiaoyan; Wu, Ye; Wu, Xiru; Wei, Liping; Zhang, Yuehua Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
42. Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. Issue 4 (April 2018) Authors: Arai, Masami; Yokoyama, Shiro; Watanabe, Chie; Yoshida, Reiko; Kita, Mizuho; Okawa, Megumi; Sakurai, Akihiro; Sekine, Masayuki; Yotsumoto, Junko; Nomura, Hiroyuki; Akama, Yoshinori; Inuzuka, Mayuko; Nomizu, Tadashi; Enomoto, Takayuki; Nakamura, Seigo Journal: Journal of human genetics Issue: Volume 63:Issue 4(2018) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
43. Genetic engineering in nonhuman primates for human disease modeling. Issue 2 (February 2018) Authors: Sato, Kenya; Sasaki, Erika Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
44. Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome. Issue 1 (January 2018) Authors: Heuvel, Lambertus; Riesbeck, Kristian; El Tahir, Omaima; Gracchi, Valentina; Kremlitzka, Mariann; Morré, Servaas; Furth, A.; Singh, Birendra; Okrój, Marcin; Kar, Nicole; Blom, Anna; Volokhina, Elena Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
45. Genome editing for the reproduction and remedy of human diseases in mice. Issue 2 (February 2018) Authors: Hara, Satoshi; Takada, Shuji Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
46. Genome-wide DNA methylation analysis of human peripheral blood reveals susceptibility loci of diabetes-related hearing loss. Issue 12 (December 2018) Authors: Hao, Jin; Hua, Lin; Fu, Xinxing; Zhang, Xuelian; Zou, Qijuan; Li, Yongxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
47. Genome-wide DNA methylation analysis of human peripheral blood reveals susceptibility loci of diabetes-related hearing loss. Issue 12 (December 2018) Authors: Hao, Jin; Hua, Lin; Fu, Xinxing; Zhang, Xuelian; Zou, Qijuan; Li, Yongxin Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1241 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
48. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Issue 1 (January 2018) Authors: Shukla, Anju; Das Bhowmik, Aneek; Hebbar, Malavika; Rajagopal, Kadavigere; Girisha, Katta; Gupta, Neerja; Dalal, Ashwin Journal: Journal of human genetics Issue: Volume 63:Issue 1(2018) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
49. Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing. Issue 11 (November 2018) Authors: Yin, Xiuju; Du, Yang; Zhang, Han; Wang, Zhandong; Wang, Juan; Fu, Xinxin; Cui, Yaoyao; Chen, Chongjian; Liang, Junbin; Xuan, Zhaoling; Zhang, Xiaohong Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
50. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. Issue 11 (November 2018) Authors: Matías-Pérez, Diana; García-Montaño, Leopoldo; Cruz-Aguilar, Marisa; García-Montalvo, Iván; Nava-Valdéz, Jessica; Barragán-Arevalo, Tania; Villanueva-Mendoza, Cristina; Villarroel, Camilo; Guadarrama-Vallejo, Clavel; Cruz, Rocío; Chacón-Camacho, Oscar; Zenteno, Juan Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗