| Review Article |
|
DNA damage to human genetic disorders with neurodevelopmental defects
|
| Youngsoo Lee, Inseo Choi, Jusik Kim, and and Keeeun Kim |
|
J Genet Med 2016;13:1-13 |
|
|
| Original Articles |
|
Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
|
| Kyung Min Kang, Se Ra Sung, Ji Eun Park, Yun Jeong Shin, Sang Hee Park, Mi Uk Chin, Sang Woo Lyu, Dong Hyun Cha, and Sung Han Shim |
|
J Genet Med 2016;13:14-19 |
|
|
Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
|
| Jung Yoon Choi, Hyung Ho Yun, and Cha Gon Lee |
|
J Genet Med 2016;13:20-25 |
|
|
Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates
|
| Rasha Aziz Attia Salama, and Abeer Kamal Saleh |
|
J Genet Med 2016;13:26-30 |
|
|
| Case Reports |
|
Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
|
| Hyewon Woo, Jung Min Ko, Choong Ho Shin, and Sei Won Yang |
|
J Genet Med 2016;13:31-35 |
|
|
Two cases of TSC2/PKD1 contiguous gene deletion syndrome
|
| Jihye You, Eungu Kang, Yoonmyung Kim, Beom Hee Lee, Tae-Sung Ko, Gu-Hwan Kim, Jin-Ho Choi, and Han-Wook Yoo |
|
J Genet Med 2016;13:36-40 |
|
|
A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
|
| Min Ji Park, Dong Hun Lee, Young Lim Shin, and Yong Hee Hong |
|
J Genet Med 2016;13:41-45 |
|
|
A diagnosis of hypochondroplasia by next generation sequencing
|
| Seok Min Ahn, Young Han Kim, Jun Woo Baek, Eun Ju Bae, and Hong Jin Lee |
|
J Genet Med 2016;13:46-50 |
|
|
A family with dynamin 2-related centronuclear myopathy without ocular involvement
|
| Jin-Sung Park, Dae-Seong Kim, and Jin-Hong Shin |
|
J Genet Med 2016;13:51-54 |
|
|
A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
|
| Yoo Min Kim, and Min Kyu Kim |
|
J Genet Med 2016;13:55-58 |
|
J Genet Med 2016;13:1-58
