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| 1 |
Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures
Sohn, Young Bae;Yoo, Han-Wook;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.59-64,
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| 2 |
An overview of current knowledge about cell-free RNA in amniotic fluid
Jung, Yong Wook;Shin, Yun Jeong;Shim, Sung Han;Cha, Dong Hyun;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.65-71,
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| 3 |
Substrate reduction therapy in three patients with Gaucher disease
Kim, Soo Hyun;Kang, Eungu;Kim, Yoon-Myung;Kim, Gu-Hwan;Choi, In-Hee;Choi, Jin-Ho;Yoo, Han-Wook;Lee, Beom Hee;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.72-77,
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| 4 |
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Lee, Bom Yi;Lee, Shin Young;Lee, Yeon Woo;Kim, Shin Young;Kim, Jin Woo;Ryu, Hyun Mee;Lee, Joong Shik;Park, So Yeon;Seo, Ju Tae;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.78-88,
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| 5 |
The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia
Choe, David Kwang Yong;Oh, Jeong Won;Jun, Jong Kwan;Choi, Young Min;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.89-94,
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| 6 |
Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.95-98,
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| 7 |
Three Korean patients with Cantú syndrome caused by mutations in ABCC9 and their clinical manifestations
Jang, Jin Hee;Ko, Jung Min;Yang, Sei Won;Chae, Jong Hee;Bae, Eun Jung;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.99-104,
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| 8 |
Myotonic dystrophy diagnosed during the perinatal period: A case series report
Shin, You Jung;Kim, Do Jin;Park, So Yeon;Chung, Jin Hoon;Lee, Yeon Kyung;Ryu, Hyun Mee;
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Korean Society of Medical Genetics and Genomics
, v.13, no.2, pp.105-110,
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