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J Genet Med 2016;13:59-110
Review Articles
Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
Young Bae Sohn, and Han-Wook Yoo
J Genet Med 2016;13:59-64
An overview of current knowledge about cell-free RNA in amniotic fluid
Yong Wook Jung, Yun Jeong Shin, Sung Han Shim, and Dong Hyun Cha
J Genet Med 2016;13:65-71
Original Articles
Substrate reduction therapy in three patients with Gaucher disease
Soo Hyun Kim, Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, and Beom Hee Lee
J Genet Med 2016;13:72-77
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
J Genet Med 2016;13:78-88
The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia
David Kwang Yong Choe, Jeong Won Oh, Jong Kwan Jun, and Young Min Choi
J Genet Med 2016;13:89-94
Case Reports
Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Dongsook Lee, Heeju Park, Sanha Kwak, Soomin Lee, Sanghee Go, Sohyun Park, Sukyung Jo, Kichul Kim, Seunggwan Lee, and Doyeong Hwang
J Genet Med 2016;13:95-98
Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
Jin Hee Jang, Jung Min Ko, Sei Won Yang, Jong Hee Chae, and Eun Jung Bae
J Genet Med 2016;13:99-104
Myotonic dystrophy diagnosed during the perinatal period: A case series report
You Jung Shin, Do Jin Kim, So Yeon Park, Jin Hoon Chung, Yeon Kyung Lee, and Hyun Mee Ryu
J Genet Med 2016;13:105-110
The journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) was first published in 1997. JGM is a peer reviewed and open-access journal providing up-to-date information relevant to the professions of genetics and medicine. JGM publishes review...
 
Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test
Min-Jeong Kim, Chang Hyuk Kwon, Dong-In Kim, Hee Su Im, Sungil Park, Ji Ho Kim, Jin-Sik Bae, Myunghee Lee, and Min Seob Lee
Received November 11, 2015; Accepted December 24, 2015.
Whole genome sequencing based noninvasive prenatal test
Eun-Hae Cho
Received July 23, 2015; Accepted November 13, 2015.
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.

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