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Journal of Genetic Medicine 2017;14:49-89
Review Article
Biomarkers and genetic factors for early prediction of pre-eclampsia
Hannah Kim, and Sung Shin Shim
Journal of Genetic Medicine 2017;14:49-55
Original Article
Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2
Hye-ji Kim, Go Hun Seo, Yoon Myung Kim, Gu-Hwan Kim, Eul-Ju Seo, Young-Shin Ra, Jin-Ho Choi, Han-Wook Yoo, and Beom Hee Lee
Journal of Genetic Medicine 2017;14:56-61
Case Reports
Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family
Bom-Yi Lee, Ju-Yeon Park, Yeon-Woo Lee, Ah-Rum Oh, Shin-Young Lee, So-Yeon Park, Hyun-Mee Ryu, and Si-Won Lee
Journal of Genetic Medicine 2017;14:62-66
Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature
Seung Do Yang, Seung Ju Lee, Dong Hwan Lee, and Yong Hee Hong
Journal of Genetic Medicine 2017;14:67-70
A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia
Hussein Algahtani, and Bader Shirah
Journal of Genetic Medicine 2017;14:71-74
Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Dahye Kim, Yoon-Myung Kim, Go Hun Seo, Gu Hwan Kim, Han Wook Yoo, Mi-Sun Yum, Tae-Sung Ko, and Beom Hee Lee
Journal of Genetic Medicine 2017;14:75-79
Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia
Young A Kim, Ji-Yong Kim, Yoo-Mi Kim, and Chong Kun Cheon
Journal of Genetic Medicine 2017;14:80-85
The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
Eun Sun Lee, Jung Min Ko, and Jin Su Moon
Journal of Genetic Medicine 2017;14:86-89
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....
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.
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.