| Review Article |
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Rehabilitation of spinal muscular atrophy: current consensus and future direction
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| You Gyoung Yi, Hyung-Ik Shin, and Dae-Hyun Jang |
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Journal of Genetic Medicine 2020;17:55-61 |
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| Original Articles |
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One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I
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| Young Bae Sohn, Yewon Kim, and Ji Eun Moon |
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Journal of Genetic Medicine 2020;17:62-67 |
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Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary study
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| Min Jin Lee, Soo Hyun Kim, Hee Jin Park, Sung Han Shim, Hee Yeon Jang, and Dong Hyun Cha |
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Journal of Genetic Medicine 2020;17:68-72 |
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Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center
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| Anna Cho, Soo Yeon Kim, Jin Sook Lee, Byung Chan Lim, Hunmin Kim, Hee Hwang, and Jong-Hee Chae |
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Journal of Genetic Medicine 2020;17:73-78 |
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| Case Reports |
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A case with GRIN2A mutation and its non-neurological manifestations
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| Soo Yeon Lee, So Yoon Jung, and Jeongho Lee |
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Journal of Genetic Medicine 2020;17:79-82 |
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Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7
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| Yoongu Kang, Jinsup Kim, Hyun Ju Lee, and Hyun Kyung Park |
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Journal of Genetic Medicine 2020;17:83-88 |
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Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
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| Ho-Sung Ryu, Yun-Jeong Lee, and Jong-Mok Lee |
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Journal of Genetic Medicine 2020;17:89-91 |
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Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
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| Tae-Gyeong Kim, Yoon-Ha Choi, Ye-Na Lee, Min-Ji Kang, Go Hun Seo, and Beom Hee Lee |
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Journal of Genetic Medicine 2020;17:92-96 |
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A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
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| Hamin Kim, Hyunjoo Lee, and Young-Mock Lee |
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Journal of Genetic Medicine 2020;17:97-101 |
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A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication
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| Beom Joon Kim, Woori Jang, Myungshin Kim, and YoungAh Youn |
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Journal of Genetic Medicine 2020;17:102-107 |
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Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia
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| Mi Hyeon Gang, Jianne Lee, Yong Wook Lee, Ji Hye Shin, Han Hyuk Lim, Yoo-Mi Kim, and Mea-young Chang |
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Journal of Genetic Medicine 2020;17:108-111 |
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Journal of Genetic Medicine 2020;17:55-111
