• 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

• 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