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Journal of Genetic Medicine 2020;17:55-111
Review Article
Rehabilitation of spinal muscular atrophy: current consensus and future direction
You Gyoung Yi, Hyung-Ik Shin, and Dae-Hyun Jang
Journal of Genetic Medicine 2020;17:55-61
Original Articles
One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I
Young Bae Sohn, Yewon Kim, and Ji Eun Moon
Journal of Genetic Medicine 2020;17:62-67
Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary study
Min Jin Lee, Soo Hyun Kim, Hee Jin Park, Sung Han Shim, Hee Yeon Jang, and Dong Hyun Cha
Journal of Genetic Medicine 2020;17:68-72
Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center
Anna Cho, Soo Yeon Kim, Jin Sook Lee, Byung Chan Lim, Hunmin Kim, Hee Hwang, and Jong-Hee Chae
Journal of Genetic Medicine 2020;17:73-78
Case Reports
A case with GRIN2A mutation and its non-neurological manifestations
Soo Yeon Lee, So Yoon Jung, and Jeongho Lee
Journal of Genetic Medicine 2020;17:79-82
Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7
Yoongu Kang, Jinsup Kim, Hyun Ju Lee, and Hyun Kyung Park
Journal of Genetic Medicine 2020;17:83-88
Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
Ho-Sung Ryu, Yun-Jeong Lee, and Jong-Mok Lee
Journal of Genetic Medicine 2020;17:89-91
Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
Tae-Gyeong Kim, Yoon-Ha Choi, Ye-Na Lee, Min-Ji Kang, Go Hun Seo, and Beom Hee Lee
Journal of Genetic Medicine 2020;17:92-96
A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
Hamin Kim, Hyunjoo Lee, and Young-Mock Lee
Journal of Genetic Medicine 2020;17:97-101
A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication
Beom Joon Kim, Woori Jang, Myungshin Kim, and YoungAh Youn
Journal of Genetic Medicine 2020;17:102-107
Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia
Mi Hyeon Gang, Jianne Lee, Yong Wook Lee, Ji Hye Shin, Han Hyuk Lim, Yoo-Mi Kim, and Mea-young Chang
Journal of Genetic Medicine 2020;17:108-111
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.