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Journal of Genetic Medicine 2024;21:1-40
Review Articles
Understanding and managing patients with adult rare diseases
Jangsup Moon
Journal of Genetic Medicine 2024;21:1-5
Using zebrafish as an animal model for studying rare neurological disorders: A human genetics perspective
Dilan Wellalage Don, Tae-Ik Choi, Tae-Yoon Kim, Kang-Han Lee, Yoonsung Lee, and Cheol-Hee Kim
Journal of Genetic Medicine 2024;21:6-13
Infantile nystagmus syndrome: Promise and pitfalls of genetic testing
Eun Hye Oh and Jae-Hwan Choi
Journal of Genetic Medicine 2024;21:14-21
Original Article
Mutation spectrum of NF1 gene in Korean unrelated patients with neurofibromatosis 1: Six novel pathogenic variants
Sung Hee Han, Eun Joo Kang , Mina Yang, Suekyeung Kim, Sang Gon Lee, and Eun Hee Lee
Journal of Genetic Medicine 2024;21:22-30
Case Reports
Late-onset drug resistant epilepsy in an adolescent with Allan-Herndon-Dudley syndrome
Soyoung Park, Young-Lim Shin, Go Hun Seo, and Yong Hee Hong
Journal of Genetic Medicine 2024;21:31-35
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode with m.3243A>G variant involving the cerebellum and basal ganglia
Chungmo Koo, Jaejin Yang, Jeong Rye Kim, and Jeesuk Yu
Journal of Genetic Medicine 2024;21:36-40
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.