search for


Journal of Genetic Medicine 2023;20:31-74
Review Articles
Exome and genome sequencing for diagnosing patients with suspected rare genetic disease
Go Hun Seo and Hane Lee
Journal of Genetic Medicine 2023;20:31-38
Recent progress in using Drosophila as a platform for human genetic disease research
Wan Hee Yoon
Journal of Genetic Medicine 2023;20:39-45
Exonic copy number variations in rare genetic disorders
Man Jin Kim
Journal of Genetic Medicine 2023;20:46-51
Original Articles
Differential microbiota network according to colorectal cancer lymph node metastasis stages
Yeuni Yu, Donghyun Han, Hyomin Kim, Yun Hak Kim, and Dongjun Lee
Journal of Genetic Medicine 2023;20:52-59
Growth hormone treatment for children with mucopolysaccharidosis I or II
Minji Im, Chiwoo Kim, Juyoung Sung, Insung Kim, Ji-Hoon Hwang, Min-Sun Kim, and Sung Yoon Cho
Journal of Genetic Medicine 2023;20:60-69
Case Report
A Korean case of CTCF related neurodevelopmental disorders
Seong Ryeong Kang, Soo Hyun Seo, Kyunghoon Kim, Hee Bum Yang, Hye Ran Yang, and Anna Cho
Journal of Genetic Medicine 2023;20:70-74
The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....
Female Carriers of Duchenne Muscular Dystrophy
Yu Na Cho, and Young-Chul Choi
Received October 11, 2013; Accepted December 20, 2013.
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.