• A Prenatal Case of Paracentric Inversion of Chromosome 18, inv(18)(q21.1q22)

• An Gye-Hyeong

• Kim Moon-Young, Kim Min-Hyoung, Kim Yun-Young, Choi Kyu-Hong, Kwak Dong-Wook, Ryu Hyun-Mee,&nbs...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 101 ~ 103

• A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

• Lee Beom-Hee

• Kim Yoo-Mi, Kim Young-Hwue, Yoo Han-Wook, Kim Gu-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 98 ~ 100

• A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

• Min Hye-Won

• Koo Kyo-Yeon, Lee Chul-Ho, Yang Jeong-Yoon, Lee Jin-Sung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 93 ~ 97

• A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

• Ko Jung-Min

• Hah J-Hun, Kim Suk-Wha, Cho Tae-Joon, Kim Gu-Hwan, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 89 ~ 92

• Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebr...

• Sohn Young-Bae

• Jeong Seon-Yong, Kim Hyon-Ju, An Young-Sil, Lee Su-Jin, Choi Jin-Wook, Ko Jung-Min

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 84 ~ 88

• Maternal Plasma Hepatocyte Growth Factor Concentrations in Women Who Subsequently Developed Preeclam...

• Kim Shin-Young

• Park So-Yeon, Kim Mi-Jin, Ryu Hyun-Mee, Kim Moon-Young, Choi Kyu-Hong, Kwak Dong-Wook, Han...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 78 ~ 83

• Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Ko...

• Han Sung-Hee

• Heo Yun-Ah, Yang Young-Ho, Kim Young-Jin, Cho Han-Ik, Lee Kyoung-Ryul

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 73 ~ 77

• Modeling of Human Genetic Diseases Via Cellular Reprogramming

• Kang Min-Yong

• Suh Ji-Hoon, Han Yong-Mahn

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.2 67 ~ 72

• Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean ...

• Cheon Chong-Kun

• Choi Hyung-Soon, Kim Su-Yung, Yoo Han-Wook, Kim Gu-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 42 ~ 46

• A Korean Family with Cholesterol Ester Transfer Protein Deficiency

• Youn Seo-Young

• Shin Ik-Soon, Hong Yong-Hee, Lee Dong-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 38 ~ 41

• A Case with Emanuel Syndrome Resulting from a Maternal Balanced Translocation

• Kim Ja-Hye

• Kim Yoo-Mi, Lee Beom-Hee, Kim Ja-Hyung, Seo Eul-Ju, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 35 ~ 37

• A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

• Kim Hyun-Jin

• Lee Beom-Hee, Kim Yoo-Mi, Kim Gu-Hwan, Kim Ok-Hwa, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 31 ~ 34

• Risk Reducing Surgery in Carriers with Double Heterozygosity for BRCA1 and BRCA2 Mutations

• Hong Woo-Sung

• Kim Ku-Sang, Jung Yong-Sik, Kang Seok-Yun, Kang Doo-Kyoung, Kim Tae-Hoon, Yim Hyun-Ee, Chu...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 25 ~ 30

• Fetal Loss Rate after Mid-trimester Amniocentesis

• Han You-Jung

• Kim Yun-Young, Lee Si-Won, Kim Min-Hyoung, Chung Jin-Hoon, Ahn Hyun-Kyong, Han Jung-Yeol, ...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 22 ~ 24

• Analysis of Parental Decisions Based on Sex Chromosome Abnormalities Detected Prenatally: A Ten-year...

• An Gye-Hyeong

• Choi Kyu-Hong, Yang Jae-Hyug, Kim Moon-Young, Han Jung-Yeol, Park So-Yeon, Lee Bom-Yi, Lee...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 17 ~ 21

• Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis

• Kim Sung-Ah

• Kang Moon-Joo, Kim Hee-Sun, Oh Sun-Kyung, Ku Seung-Yup, Choi Young-Min, Jun Jong-Kwan, Moo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 11 ~ 16

• Hereditary Breast Cancer in Korea

• Kim Sung-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2012  Volume.9  No.1 1 ~ 10