• A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant

• Choi Woo-Chan

• Hwang Yang-Ha, Lee Jong-Mok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 38 ~ 41

• From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c....

• Yoo Suk-Dong

• Lee Jun, Kim Min-Ji, Yoon Ju-Young, Cheon Chong-Kun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 32 ~ 37

• A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets

• Kim Se-Jin

• Kim Sung-Soo, Kim Nam-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 27 ~ 31

• Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mi...

• Yoon Ji-Hye

• Kim Ka-Young, Lee Sang-Yun, Kim Soo-Yeon, Lee Young-Ah, Ki Chang-Seok, Song Jung-Han, Shin...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 22 ~ 26

• Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS an...

• Yu Eun-Jeong

• Kim Min-Jee, Park Eun-A, Hong Ye-Seul, Park Sun-Ok, Park Sang-Hee, Lee Yu-Bin, Yoon Tae-Ki...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 14 ~ 21

• Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for p...

• Kim Min-Jee

• Park Sun-Ok, Hong Ye-Seul, Park Eun-A, Lee Yu-Bin, Choi Byung-Ok, Lee Kyung-Ah, Yu Eun-Jeo...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 7 ~ 13

• Genetic variations affecting response of radiotherapy

• Choi Eun-Kyung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.1 1 ~ 6