• Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe microgna...

• Gang Mi-Hyeon

• Lee Jianne, Lee Yong-Wook, Shin Ji-Hye, Lim Han-Hyuk, Kim Yoo-Mi, Chang Mea-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 108 ~ 111

• A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication

• Kim Beom-Joon

• Jang Woo-Ri, Kim Myung-Shin, Youn Young-Ah

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 102 ~ 107

• A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene

• Kim Ha-Min

• Lee Hyun-Joo, Lee Young-Mock

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 97 ~ 101

• Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with...

• Kim Tae-Gyeong

• Choi Yoon-Ha, Lee Ye-Na, Kang Min-Ji, Seo Go-Hun, Lee Beom-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 92 ~ 96

• Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDi...

• Ryu Ho-Sung

• Lee Yun-Jeong, Lee Jong-Mok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 89 ~ 91

• Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromos...

• Kang Yoon-Gu

• Kim Jin-Sup, Lee Hyun-Ju, Park Hyun-Kyung

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 83 ~ 88

• A case with GRIN2A mutation and its non-neurological manifestations

• Lee Soo-Yeon

• Jung So-Yoon, Lee Jeong-Ho

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 79 ~ 82

• Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary...

• Cho An-Na

• Kim Soo-Yeon, Lee Jin-Sook, Lim Byung-Chan, Kim Hun-Min, Hwang Hee, Chae Jong-Hee

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 73 ~ 78

• Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary stu...

• Lee Min-Jin

• Kim Soo-Hyun, Park Hee-Jin, Shim Sung-Han, Jang Hee-Yeon, Cha Dong-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 68 ~ 72

• One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type ...

• Sohn Young-Bae

• Kim Ye-Won, Moon Ji-Eun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 62 ~ 67

• Rehabilitation of spinal muscular atrophy: current consensus and future direction

• Yi You-Gyoung

• Shin Hyung-Ik, Jang Dae-Hyun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2020  Volume.17  No.2 55 ~ 61