• 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