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Journal of Genetic Medicine 2018;15:49-119
Review Articles
Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
So Hyun Shim, and Dong Hyun Cha
Journal of Genetic Medicine 2018;15:49-54
Integrated diagnostic approach of pediatric neuromuscular disorders
Ha Neul Lee, and Young-Mock Lee
Journal of Genetic Medicine 2018;15:55-63
Original Articles
Genetic overgrowth syndrome: A single center’s experience
Chong Kun Cheon, Yoo-Mi Kim, Ju Young Yoon, and Young A Kim
Journal of Genetic Medicine 2018;15:64-71
Korean physicians’ attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
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
Journal of Genetic Medicine 2018;15:72-78
The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
Hyeyeon Boo, So Yun Kim, Eui Sun Seoung, Min Hyung Kim, Moon Young Kim, Hyun Mee Ryu, You Jung Han, and Jin Hoon Chung
Journal of Genetic Medicine 2018;15:79-86
Case Reports
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Inkyu Gill, Ja Hye Kim, Jin-Hwa Moon, Yong Joo Kim, and Nam Su Kim
Journal of Genetic Medicine 2018;15:87-91
First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
Kang-in Kim, Hanbyul Lee, So Yoon Jung, Dong Hwan Lee, and Jeongho Lee
Journal of Genetic Medicine 2018;15:92-96
A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
Jin-Mo Park, Yun Jeong Lee, and Jin-Sung Park
Journal of Genetic Medicine 2018;15:97-101
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
Yoo-Mi Kim, Chong Kun Cheon, Han Hyuk Lim, and Han-Wook Yoo
Journal of Genetic Medicine 2018;15:102-106
X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
Jong-Mok Lee, and Jin-Hong Shin
Journal of Genetic Medicine 2018;15:107-109
Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
Min Jeong Jang, Cha Gon Lee, and Hyun Jung Kim
Journal of Genetic Medicine 2018;15:110-114
Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Ju Kyung Hyun, and Yu Jin Jung
Journal of Genetic Medicine 2018;15:115-119
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....
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.
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.
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.