• 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