• 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

• A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier...

• Kim Yoo-Min

• Kim Min-Kyu

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 55 ~ 58

• A family with dynamin 2-related centronuclear myopathy without ocular involvement

• Park Jin-Sung

• Kim Dae-Seong, Shin Jin-Hong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 51 ~ 54

• A diagnosis of hypochondroplasia by next generation sequencing

• Ahn Seok-Min

• Kim Young-Han, Baek Jun-Woo, Bae Eun-Ju, Lee Hong-Jin

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 46 ~ 50

• A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

• Park Min-Ji

• Lee Dong-Hun, Shin Young-Lim, Hong Yong-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 41 ~ 45

• Two cases of TSC2/PKD1 contiguous gene deletion syndrome

• You Ji-Hye

• Kang Eun-Gu, Kim Yoon-Myung, Lee Beom-Hee, Ko Tae-Sung, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 36 ~ 40

• Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

• Woo Hye-Won

• Ko Jung-Min, Shin Choong-Ho, Yang Sei-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 31 ~ 35

• Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Kh...

• Rasha Aziz Attia Salama

• Abeer Kamal Saleh

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 26 ~ 30

• Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea

• Choi Jung-Yoon

• Yun Hyung-Ho, Lee Cha-Gon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 20 ~ 25

• Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

• Kang Kyung-Min

• Sung Se-Ra, Park Ji-Eun, Shin Yun-Jeong, Park Sang-Hee, Chin Mi-Uk, Lyu Sang-Woo, Cha Dong...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 14 ~ 19

• DNA damage to human genetic disorders with neurodevelopmental defects

• Lee Young-Soo

• Choi In-Seo, Kim Ju-Sik, Kim Kee-Eun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2016  Volume.13  No.1 1 ~ 13