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Journal of Genetic Medicine 2023;20:1-29
Review Articles
Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
Yeonsong Choi, David Whee-Young Choi, and Semin Lee
Journal of Genetic Medicine 2023;20:1-5
Fabry disease: current treatment and future perspective
Han-Wook Yoo
Journal of Genetic Medicine 2023;20:6-14
Digenic or oligogenic mutations in presumed monogenic disorders: A review
Afif Ben-Mahmoud, Vijay Gupta, Cheol-Hee Kim, Lawrence C Layman, and Hyung-Goo Kim
Journal of Genetic Medicine 2023;20:15-24
Case Report
Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
Ye Ji Kim, Sun Cho, Hwa Young Kim, Young Hwa Jung, Jung Min Ko, Chang Won Choi, and Jaehyun Kim
Journal of Genetic Medicine 2023;20:25-29
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.