| Original Articles |
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First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
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| Da Eun Lee, Shin Young Kim, Hyun Jin Kim, So Yeon Park, Min Hyoung Kim, You Jung Han, and Hyun Mee Ryu |
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J Genet Med 2017;14:1-7 |
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A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans
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| EnShi Xu, Jinho Shin, Ji Eun Lim, Mi Kyung Kim, Bo Youl Choi, Min-Ho Shin, Dong Hoon Shin, Young-Hoon Lee, Byung-Yeol Chun, Kyung-Won Hong, and Joo-Yeon Hwang |
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J Genet Med 2017;14:8-17 |
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| Case Reports |
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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
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| Ji Hyen Lee, Hae Soon Kim, Gu-Hwan Kim, and Han-Wook Yoo |
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J Genet Med 2017;14:18-22 |
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Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
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| Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Han-Wook Yoo, and Beom Hee Lee |
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J Genet Med 2017;14:23-26 |
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A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
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| Juyeen Lee, Won Duck Kim, Hae Sook Kim, Eun Kyung Lee, and Hyung Doo Park |
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J Genet Med 2017;14:27-30 |
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A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
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| Dong Hyun Cha, Junnam Lee, Young-Joo Jeon, Yong Wook Jung, Ja-Hyun Jang, Taeheon Lee, and Eun Hae Cho |
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J Genet Med 2017;14:31-33 |
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Prenatal diagnosis of 5p deletion syndrome: A case series report
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| You Jung Han, and Dong Wook Kwak |
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J Genet Med 2017;14:34-37 |
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Prenatal diagnosis of 4p deletion syndrome: A case series report
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| Dong Wook Kwak, and Hyun Kyong Ahn |
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J Genet Med 2017;14:38-42 |
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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
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| Sang Hee Park, Sung Han Shim, Yong Wook Jung, So Hyun Shim, Mi Uk Chin, Ji Eun Park, Sung Mi Bae, Sang Woo Lyu, and Dong Hyun Cha |
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J Genet Med 2017;14:43-47 |
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J Genet Med 2017;14:1-47
