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Journal of Genetic Medicine 2018;15:1-47
Review Article
Clinical significance of sonographic soft markers: A review
Mi Sun Kim, Sukho Kang, and Hee Young Cho
Journal of Genetic Medicine 2018;15:1-7
Original Article
Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
Eui Sun Seong, Hye Jin Youn, Min Kyung Park, Hye Yeon Boo, Bom Yi Lee, Hyun Mee Ryu, and You Jung Han
Journal of Genetic Medicine 2018;15:8-12
Case Reports
A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Da Hyun Kim, Sun Hee Heo, Go Hun Seo, Arum Oh, Taeho Kim, Gu-Hwan Kim, Young Hee Yoon, Han-Wook Yoo, and Beom Hee Lee
Journal of Genetic Medicine 2018;15:13-16
Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
Sang-Yeun Cho, and Ja Hye Kim
Journal of Genetic Medicine 2018;15:17-19
A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report
Youn Young Choi, Min Hyung Woo, Gi Beom Kim, Mi Kyoung Song, Sang Yoon Lee, Eun Jung Bae, Murim Choi, and Young-Sook Kim
Journal of Genetic Medicine 2018;15:20-23
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
Sungwon Hong, and Cha Gon Lee
Journal of Genetic Medicine 2018;15:24-27
A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease
Soonhak Kwon, Jin-Sung Park, Jae Hun Jung, Su Kyeong Hwang, Yeo Hyang Kim, and Yun Jeong Lee
Journal of Genetic Medicine 2018;15:28-33
1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction
Yoon Hwa Kim, Ju Seok Yang, Young Joo Lee, Mi Hye Bae, Kyung Hee Park, Dong Hyung Lee, Kyung-Hwa Shin, and Seung Chul Kim
Journal of Genetic Medicine 2018;15:34-37
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
Go Hun Seo, Yoon-Myung Kim, Gu-Hwan Kim, Eul-Ju Seo, Jin Ho Choi, Beom Hee Lee, and Han-Wook Yoo
Journal of Genetic Medicine 2018;15:38-42
Partial molar pregnancy and coexisting fetus with Turner syndrome: Case report and literature review
Ji Eun Park, Ji Kwon Park, In Ae Cho, and Jong Chul Baek
Journal of Genetic Medicine 2018;15:43-47
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....
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.