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Journal of Genetic Medicine 2024;21:41-79
Review Articles
Antisense oligonucleotides in rare neurogenetic disorders
Hui Jin Shin, Ara Ko, Ji Young Oh, and Hoon-Chul Kang
Journal of Genetic Medicine 2024;21:41-50
Recent advances in Neurofibromatosis type 1 research: Towards tailored therapeutics and treatment strategies
Su Jung Park
Journal of Genetic Medicine 2024;21:51-60
Original Articles
Chromosomal microarray analysis in pregnancies with prenatal ultrasound abnormalities according to the involved organ systems
Na Kyung Yu, Bohye Gil, Kirim Hong, Soo Hyun Kim, Hee-Jin Park, Moon Young Kim, Dong Hyun Cha, and You Jung Han
Journal of Genetic Medicine 2024;21:61-65
Molecular and clinical delineation of patients with fatty acid oxidation disorder: A single center’s experience
Minji Kim, Sukdong Yoo, and Chong Kun Cheon
Journal of Genetic Medicine 2024;21:66-73
Case Report
Salih myopathy and Feingold syndrome type 1 caused by the TTN and MYCN mutation in an infant with congenital hypotonia
Eunseong Seo, Dohyung Kim, Soojin Hwang, June-Young Koh, Young Seok Ju, Gu-Hwan Kim, and Beom Hee Lee
Journal of Genetic Medicine 2024;21:74-79
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.