• A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of...

• Oh Moon-Yeon

• Kim Jun-Suk, Kim Ja-Hye, Cho Ja-Hyang, Lee Beom-Hee, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Woo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 86 ~ 90

• Marfan syndrome and symptomatic dural ectasia: A case report and literature review

• Eom Si-Nae

• Kim Dong-Chan, Kim Kwang-Nam, Kim Sung-Hye

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 83 ~ 85

• A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung¡¯s disease

• Lee Da-Rae

• Kim Ja-Hye, Cho Ja-Hyang, Oh Moon-Yun, Lee Beom-Hee, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Woo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 79 ~ 82

• A case of Sotos syndrome presented with end-stage renal disease due to the posterior urethral valve

• Cho Won-Im

• Ko Jung-Min, Kang Hee-Gyung, Ha Il-Soo, Cheong Hae-Il

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 74 ~ 78

• Distribution of five common subtypes of spinocerebellar ataxia in the Korean population

• Choi In-Hee

• Kim Gu-Hwan, Lee Beom-Hee, Choi Jin-Ho, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 69 ~ 73

• Carrier frequency of SLC26A4 mutations causing inherited deafness in the Korean population

• Kim Hyo-Gyeong

• Lim Hwan-Sub, Ryu Jae-Song, Kim Hyun-Chul, Lee Sang-Hoo, Kim Yun-Tae, Kim Young-Jin, Lee K...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 63 ~ 68

• Analysis of increased nuchal translucency: Chorionic villi sampling and second-trimester level II so...

• Park JI-Eun

• Park Ji-Kwon, Cho In-Ae, Baek Jong-Chul, Kang Min-Young, Lee Jae-Ik, Shin Jeong-Kyu, Choi ...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 56 ~ 62

• Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

• Hong Seong-Yeon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 49 ~ 55

• Chorionic villus sampling

• Shim Soon-Sup

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.2 43 ~ 48

• A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

• Park Sang-Wook

• Sohn Young-Bae, Chung In-Soon, Hong Ji-Hee, Jung Eun-Jung, Jeong Seon-Yong, Jin Hyun-Seok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 40 ~ 42

• Clinical characterization of a Korean case with 3p25 deletion

• Lee Hye-Jin

• Kim Ja-Hye, Cho Ja-Hyang, Lee Beom-Hee, Choi Jin-Ho, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 36 ~ 39

• Two siblings with Bardet-Biedl syndrome caused by mutations in BBS10 : the first case identified in ...

• Yoon Sung-Chul

• Lee Hye-Jin, Kang Hee-Gyung, Cheong Hae-Il, Yu Hyeong-Gon, Kim Jae-Hyung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 31 ~ 35

• A familial case with brachydactyly type C with a GDF5 mutation

• Yeh Hye-Ryun

• Lee Beom-Hee, Kim Ja-Hye, Cho Ja-Hyang, Kim Gu-Hwan, Kim Jae-Min, Choi In-Hee, Yoo Han-Woo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 27 ~ 30

• Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showi...

• Ko Jung-Min

• Shin Choong-Ho, Yang Sei-Won, Cheong Hae-Il, Song Jung-Han

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 22 ~ 26

• Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

• Park Sang-Hee

• Shim Sung-Han, Jung Yong-Wook, Kim Da-Hee, Kang Su-Jin, Park Sun-Ok, Cha Dong-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 16 ~ 21

• Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

• Lee Jae-Ho

• Kim Dae-Kwang

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 11 ~ 15

• Type 1 diabetes genetic susceptibility markers and their functional implications

• Park Yong-Soo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2014  Volume.11  No.1 1 ~ 10