search for


Journal of Genetic Medicine 2022;19:43-119
Review Articles
Clinical application of prenatal chromosomal microarray
Chang Ahn Seol
Journal of Genetic Medicine 2022;19:43-48
Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
Kang-Min Lee and Jeanho Yun
Journal of Genetic Medicine 2022;19:49-56
Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
Seung Hwan Oh
Journal of Genetic Medicine 2022;19:57-62
Original Articles
Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
Bo-Young Kim, Do-Wan Kim, Eunkuk Park, Jeonghyun Kim, Chang-Gun Lee, Hyun-Seok Jin, and Seon-Yong Jeong
Journal of Genetic Medicine 2022;19:63-75
Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
Chong Kun Cheon, Yong Beom Shin, Soo-Yeon Kim, Go Hun Seo, Hane Lee, Changwon Keum, and Seung Hwan Oh
Journal of Genetic Medicine 2022;19:76-84
Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
Dayun Kang, Hwa Young Kim, Jong-Hee Chae, and Jung Min Ko
Journal of Genetic Medicine 2022;19:85-93
Case Reports
Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
Jae Hun Yun, Yong Hee Hong, Go Hun Seo, and Young-Lim Shin
Journal of Genetic Medicine 2022;19:94-99
SLC9A6-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
Hye Ri Bae and Young Ok Kim
Journal of Genetic Medicine 2022;19:100-104
The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
Jin Young Cho, Tae Kwan Lee, Yoo Mi Kim, and Han Hyuk Lim
Journal of Genetic Medicine 2022;19:105-110
Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
Yoon Sunwoo, Soo Hyun Seo, Ho-Joong Kim, Moon Seok Park, and Anna Cho
Journal of Genetic Medicine 2022;19:111-114
The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
Lia Kim, Hwa Young Kim, and Jung Min Ko
Journal of Genetic Medicine 2022;19:115-119
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.