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Journal of Genetic Medicine 2020;17:1-54
Review Article
Insight into the pathogensis of polycystic ovarian syndrome
Yong Wook Jung, Gun Ho Lee, You Jung Han, and Dong Hyun Cha
Journal of Genetic Medicine 2020;17:1-10
Original Articles
Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
So Yeon Hong, So Hyun Shim, Hee Jin Park, Sung Shin Shim, Ji Youn Kim, Yeon Kyung Cho, Soo Hyun Kim and Dong Hyun Cha
Journal of Genetic Medicine 2020;17:11-15
Risk of Down syndrome in duodenal atresia and atrioventricular septal defect: Is there an ethnic difference?
Seung Mi Lee, Jong Kwan Jun, Hyun-Young Kim, Seung Han Shin, Jeong Woo Park, Min Kyoung Kim, Chan-Wook Park, and Joong Shin Park
Journal of Genetic Medicine 2020;17:16-20
Clinical application of chromosomal microarray for pathogenic genomic imbalance in fetuses with increased nuchal translucency but normal karyotype
Dongsook Lee, Sanghee Go, Sohyun Na, Surim Park, Jinyoung Ma, and Doyeong Hwang
Journal of Genetic Medicine 2020;17:21-26
Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea
Min Ji Kang, Moon-Woo Seong, Sung Im Cho, Joong Shin Park, Jong Kwan Jun, and Sung Sup Park
Journal of Genetic Medicine 2020;17:27-33
Case Reports
Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
Woong-Woo Lee, Jong-Moon Choi, and Cha Gon Lee
Journal of Genetic Medicine 2020;17:34-38
Clinical features of Senior–Loken syndrome with IQCB1/NPHP5 mutation in a Filipino man
Harold Henrison C. Chiu, Ma. Sergia Fatima P. Sucaldito, Ebner Bon G. Maceda, Jan Andre S. Montemayor, Diana R. Tamondong-Lachica
Journal of Genetic Medicine 2020;17:39-42
Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy
Min Jin Jeon, Seul Gi Park, Man Jin Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, and Soo Yeon Kim
Journal of Genetic Medicine 2020;17:43-46
A case of 45,X/47,XXX mosaic Turner syndrome: Clinical manifestations and effect of growth hormone treatment
Su Hyun Yoo, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Min Ho Jung, Byung Kyu Suh, and Kyoungsoon Cho
Journal of Genetic Medicine 2020;17:47-50
Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease
Won Kyung Kwon, Suhee Kim, Ja-Hyun Jang, and Jong-Won Kim
Journal of Genetic Medicine 2020;17:51-54
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.
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.
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.