• The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp var...

• Kim Li-A

• Kim Hwa-Young, Ko Jung-Min

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 115 ~ 119

• Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome

• Sunwoo Yoon

• Seo Soo-Hyun, Kim Ho-Joong, Park Moon-Seok, Cho An-Na

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 111 ~ 114

• The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, deve...

• Cho Jin-Young

• Lee Tae-Kwan, Kim Yoo-Mi, Lim Han-Hyuk

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 105 ~ 110

• SLC9A6-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A...

• Bae Hye-Ri

• Kim Young-Ok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 100 ~ 104

• Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a chi...

• Yun Jae-Hun

• Hong Yong-Hee, Seo Go-Hun, Shin Young-Lim

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 94 ~ 99

• Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome

• Kang Da-Yun

• Kim Hwa-Young, Chae Jong-Hee, Ko Jung-Min

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 85 ~ 93

• Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for u...

• Cheon Chong-Kun

• Shin Yong-Beom, Kim Soo-Yeon, Seo Go-Hun, Lee Hane, Keum Chang-Won, Oh Seung-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 76 ~ 84

• Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean...

• Kim Bo-Young

• Kim Do-Wan, Park Eun-Kuk, Kim Jeong-Hyun, Lee Chang-Gun, Jin Hyun-Seok, Jeong Seon-Yong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 63 ~ 75

• Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency

• Oh Seung-Hwan

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 57 ~ 62

• Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases

• Lee Kang-Min

• Yun Jean-Ho

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 49 ~ 56

• Clinical application of prenatal chromosomal microarray

• Seol Chang-Ahn

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2022  Volume.19  No.2 43 ~ 48