• Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidec...

• Kim Ye-Ji

• Kim Hwa-Young, Jung Young-Hwa, Ko Jung-Min, Choi Chang-Won, Kim Jae-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2023  Volume.20  No.1 25 ~ 29

• Digenic or oligogenic mutations in presumed monogenic disorders: A review

• Afif Ben-Mahmoud

• Vijay Gupta, Kim Cheol-Hee, Lawrence C Layman, Kim Hyung-Goo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2023  Volume.20  No.1 15 ~ 24

• Fabry disease: current treatment and future perspective

• Yoo Han-Wook

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2023  Volume.20  No.1 6 ~ 14

• Multi-omics techniques for the genetic and epigenetic analysis of rare diseases

• Choi Yeon-Song

• Choi David Whee-Young, Lee Se-Min

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2023  Volume.20  No.1 1 ~ 5