• 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

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 105 ~ 110

• Three Korean patients with Cantu syndrome caused by mutations in ABCC9 and their clinical manifestat...

• Jang Jin-Hee

• Ko Jung-Min, Yang Sei-Won, Chae Jong-Hee, Bae Eun-Jung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 99 ~ 104

• Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female...

• Lee Dong-Sook

• Park Hee-Ju, Kwak San-Ha, Lee Soo-Min, Go Sang-Hee, Jo Su-Kyung, Kim Ki-Chul, Lee Seung-Gw...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 95 ~ 98

• The activity of factor VIII and IX of cord blood at mid-trimester in fetuses without hemophilia

• Choe Kwang-Yong

• Oh Jeong-Won, Jun Jong-Kwan, Choi Young-Min

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 89 ~ 94

• Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete mascu...

• Lee Bom-Yi

• Lee Shin-Young, Lee Yeon-Woo, Kim Shin-Young, Kim Jin-Woo, Ryu Hyun-Mee, Lee Joong-Shik, P...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 78 ~ 88

• Substrate reduction therapy in three patients with Gaucher disease

• Kim Soo-Hyun

• Kang Eun-Gu, Kim Yoon-Myung, Kim Gu-Hwan, Choi In-Hee, Choi Jin-Ho, Yoo Han-Wook, Lee Beom...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 72 ~ 77

• An overview of current knowledge about cell-free RNA in amniotic fluid

• Jung Yong-Wook

• Shin Yun-Jeong, Shim Sung-Han, Cha Dong-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 65 ~ 71

• Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A re...

• Sohn Young-Bae

• Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.2 59 ~ 64