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Journal of Human Genetics|September 16, 2004
A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndromeIl-Jin Kim, Hio Chung Kang, Yong Shin, et al.Journal of Human Genetics|March 17, 2004
Identification of human Clock gene variants by denaturing high-performance liquid chromatographyYing Chen, Ene-Choo TanJournal of Human Genetics|February 1, 2005
The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigreesAlka Malhotra, Kevin Cromer, Mark F Leppert, et al.Journal of Human Genetics|January 14, 2022
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatmentsTakaki Taniguchi, Masahiro Ando, Yuji Okamoto, et al.Journal of Human Genetics|September 5, 2022
DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenanceJiayu Sun, Wenwen Su, Jianwen Deng, et al.Journal of Human Genetics|November 24, 2021
LncRNA-mRNA co-expression network revealing the regulatory roles of lncRNAs in melanogenesis in vitiligoKunchi Pang, Yanju Xiao, Lili Li, et al.Journal of Human Genetics|November 26, 2021
Genetic background in late-onset sensorineural hearing loss patientsNatsumi Uehara, Takeshi Fujita, Daisuke Yamashita, et al.Journal of Human Genetics|January 13, 2022
A genotype-first analysis in a cohort of Mullerian anomalyWeijie Tian, Na Chen, Yang Ye, et al.Journal of Human Genetics|October 5, 2022
Further delineation of KIF21B-related neurodevelopmental disordersDhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, et al.Journal of Human Genetics|October 11, 2022
A nationwide survey of Schaaf-Yang syndrome in JapanYutaka Negishi, Kenji Kurosawa, Kyoko Takano, et al.Pageof 351