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J Genet Med 2017;14:1-47
Original Articles
First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
Da Eun Lee, Shin Young Kim, Hyun Jin Kim, So Yeon Park, Min Hyoung Kim, You Jung Han, and Hyun Mee Ryu
J Genet Med 2017;14:1-7
A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans
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
J Genet Med 2017;14:8-17
Case Reports
Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
Ji Hyen Lee, Hae Soon Kim, Gu-Hwan Kim, and Han-Wook Yoo
J Genet Med 2017;14:18-22
Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency
Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Han-Wook Yoo, and Beom Hee Lee
J Genet Med 2017;14:23-26
A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Juyeen Lee, Won Duck Kim, Hae Sook Kim, Eun Kyung Lee, and Hyung Doo Park
J Genet Med 2017;14:27-30
A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
Dong Hyun Cha, Junnam Lee, Young-Joo Jeon, Yong Wook Jung, Ja-Hyun Jang, Taeheon Lee, and Eun Hae Cho
J Genet Med 2017;14:31-33
Prenatal diagnosis of 5p deletion syndrome: A case series report
You Jung Han, and Dong Wook Kwak
J Genet Med 2017;14:34-37
Prenatal diagnosis of 4p deletion syndrome: A case series report
Dong Wook Kwak, and Hyun Kyong Ahn
J Genet Med 2017;14:38-42
Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification
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
J Genet Med 2017;14:43-47
The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.
An overview of current knowledge about cell-free RNA in amniotic fluid
Yong Wook Jung, Yun Jeong Shin, Sung Han Shim, and Dong Hyun Cha
Received November 9, 2016; Accepted December 8, 2016.
Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Dongsook Lee, Heeju Park, Sanha Kwak, Soomin Lee, Sanghee Go, Sohyun Park, Sukyung Jo, Kichul Kim, Seunggwan Lee, and Doyeong Hwang
Received November 16, 2016; Accepted December 4, 2016.

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