| Review Articles |
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Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
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| Young Bae Sohn, and Han-Wook Yoo |
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J Genet Med 2016;13:59-64 |
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An overview of current knowledge about cell-free RNA in amniotic fluid
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| Yong Wook Jung, Yun Jeong Shin, Sung Han Shim, and Dong Hyun Cha |
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J Genet Med 2016;13:65-71 |
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| Original Articles |
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Substrate reduction therapy in three patients with Gaucher disease
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| Soo Hyun Kim, Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, and Beom Hee Lee |
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J Genet Med 2016;13:72-77 |
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Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
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| 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 |
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J Genet Med 2016;13:78-88 |
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The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia
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| David Kwang Yong Choe, Jeong Won Oh, Jong Kwan Jun, and Young Min Choi |
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J Genet Med 2016;13:89-94 |
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| Case Reports |
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
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| Dongsook Lee, Heeju Park, Sanha Kwak, Soomin Lee, Sanghee Go, Sohyun Park, Sukyung Jo, Kichul Kim, Seunggwan Lee, and Doyeong Hwang |
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J Genet Med 2016;13:95-98 |
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Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
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| Jin Hee Jang, Jung Min Ko, Sei Won Yang, Jong Hee Chae, and Eun Jung Bae |
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J Genet Med 2016;13:99-104 |
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Myotonic dystrophy diagnosed during the perinatal period: A case series report
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| You Jung Shin, Do Jin Kim, So Yeon Park, Jin Hoon Chung, Yeon Kyung Lee, and Hyun Mee Ryu |
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J Genet Med 2016;13:105-110 |
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J Genet Med 2016;13:59-110
