• A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

• Son Yu-Yun

• Lee Byeong-Hyeon, Suh Chae-Ri, Nam Hyo-Kyoung, Lee Jung-Hwa, Hong Young-Sook, Lee Joo-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 57 ~ 60

• An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

• Lee Bom-Yi

• Park Ju-Yeon, Lee Yeon-Woo, Oh Ah-Rum, Lee Shin-Young, Choi Eun-Young, Kim Moon-Young, Ryu...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 49 ~ 56

• Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutati...

• Seo Yeon-Jeong

• Lee Ko-Eun, Ko Jung-Min, Kim Gu-Hwan, Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 44 ~ 48

• Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types...

• Kim Gu-Hwan

• Chung Sun-Ju, Ryu Ho-Sung, Kim Jae-Min, Lee Jin-Joo, Choi Seung-Hoon, Lee Ju-Yeon, Lee Beo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 38 ~ 43

• Neurogenic potentials of human amniotic fluid-derived stem cells according to expression levels of s...

• Lim Eun-Hye

• Cho Jung-Ah, Park Ho, Song Tae-Jong, Kim Woo-Young, Kim Kye-Hyun, Lee Kyo-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 31 ~ 37

• Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type ...

• Choi Yu-Ri

• Jung Sung-Chul, Shin Jin-Hee, Yoo So-Young, Lee Ji-Su, Joo Jae-Soon, Lee Jin-Ho, Hong Youn...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 25 ~ 30

• Recent advances in genetic studies of stuttering

• Kang Chang-Soo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 19 ~ 24

• Molecular genetic decoding of malformations of cortical development

• Lim Jae-Seok

• Lee Jeong-Ho

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 12 ~ 18

• Diagnostic approach for genetic causes of intellectual disability

• Yim Shin-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 6 ~ 11

• The role of de novo variants in complex and rare diseases pathogenesis

• Rahman Mahir

• Lee Woo-Hyung, Choi Mu-Rim

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2015  Volume.12  No.1 1 ~ 5