• Cohen?Gibson syndrome in a family: The first familial case report

• Kang Yeo-Jin

• Kim Young-Ok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 70 ~ 74

• A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

• Ahn Ji-Ye

• Kim Soo-Yeon, Lim Byung-Chan, Kim Ki-Joong, Chae Jong-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 64 ~ 69

• Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

• Bae So-Young

• Yang A-Ram, Ahn Ja-Hye, Kim Jin-Sup, Park Hyun-Kyung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 60 ~ 63

• West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopath...

• Choi Seul-A

• Kim Young-Ok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 55 ~ 59

• The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from ...

• Jang Jin-A

• Sohn Young-Bae, Lee Jang-Hoon, Park Moon-Sung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 48 ~ 54

• Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male ch...

• Rahman Muhammad Mizanur

• Fatema Kanij

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 44 ~ 47

• Psychological effects and risk perception after genetic counseling

• Shin Sung-Hwan

• Ryu Mi-Ra, Kwon Won-Kyung, Kim Su-Hee, Jang Ja-Hyun, Kim Jong-Won

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 38 ~ 43

• Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a ...

• Park Hee-Sue

• Kim A-Ryun, Shin Kyeong-Seob, Son Bo-Ra

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 31 ~ 37

• Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith?Wiedemann and...

• Shin Young-Lim

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 24 ~ 30

• GLB1-related disorders: GM1 gangliosidosis and Morquio B disease

• Cho Sung-Yoon

• Jin Dong-Kyu

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 16 ~ 23

• Treatment strategies targeting specific genetic etiologies in epilepsy

• Kim Hyo-Jeong

• Kang Hoon-Chul

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 8 ~ 15

• Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo development...

• Yu Eun-Jeong

• Lyu Sang-Woo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.1 1 ~ 7