| Review Articles |
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Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
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| So Hyun Shim and Dong Hyun Cha |
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J Genet Med 2018;15:49-54 |
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Integrated diagnostic approach of pediatric neuromuscular disorders
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| Ha Neul Lee and Young-Mock Lee |
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J Genet Med 2018;15:55-63 |
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| Original Articles |
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Genetic overgrowth syndrome: A single center’s experience
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| Chong Kun Cheon, Yoo-Mi Kim, Ju Young Yoon, and Young A Kim |
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J Genet Med 2018;15:64-71 |
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Korean physicians’ attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
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| Soo Hyun Kim, Kun Woo Kim, You Jung Han, Seung Mi Lee, Mi-Young Lee, Jae-Yoon Shim, Geum Joon Cho, Joon Ho Lee, Soo-young Oh, Han-Sung Kwon, Dong Hyun Cha, and Hyun Mee Ryu |
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J Genet Med 2018;15:72-78 |
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The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
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| Hyeyeon Boo, So Yun Kim, Eui Sun Seoung, Min Hyung Kim, Moon Young Kim, Hyun Mee Ryu, You Jung Han, and Jin Hoon Chung |
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J Genet Med 2018;15:79-86 |
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| Case Reports |
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Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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| Inkyu Gill, Ja Hye Kim, Jin-Hwa Moon, Yong Joo Kim, and Nam Su Kim |
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J Genet Med 2018;15:87-91 |
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First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
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| Kang-in Kim, Hanbyul Lee, So Yoon Jung, Dong Hwan Lee, and Jeongho Lee |
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J Genet Med 2018;15:92-96 |
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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
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| Jin-Mo Park, Yun Jeong Lee, and Jin-Sung Park |
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J Genet Med 2018;15:97-101 |
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Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
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| Yoo-Mi Kim, Chong Kun Cheon, Han Hyuk Lim, and Han-Wook Yoo |
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J Genet Med 2018;15:102-106 |
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X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
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| Jong-Mok Lee and Jin-Hong Shin |
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J Genet Med 2018;15:107-109 |
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Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
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| Min Jeong Jang, Cha Gon Lee, and Hyun Jung Kim |
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J Genet Med 2018;15:110-114 |
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Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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| Ju Kyung Hyun and Yu Jin Jung |
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J Genet Med 2018;15:115-119 |
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J Genet Med 2018;15:49-119
