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Journal of Genetic Medicine 2021;18:1-74
Review Articles
Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization
Eun Jeong Yu and Sang Woo Lyu
Journal of Genetic Medicine 2021;18:1-7
Treatment strategies targeting specific genetic etiologies in epilepsy
Hyo Jeong Kim and Hoon-Chul Kang
Journal of Genetic Medicine 2021;18:8-15
GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
Sung Yoon Cho and Dong-Kyu Jin
Journal of Genetic Medicine 2021;18:16-23
Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes
Young-Lim Shin
Journal of Genetic Medicine 2021;18:24-30
Original Articles
Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital
Hee Sue Park, Aryun Kim, Kyeong Seob Shin, and Bo Ra Son
Journal of Genetic Medicine 2021;18:31-37
Psychological effects and risk perception after genetic counseling
Sunghwan Shin, Mi Ra Ryu, Won Kyung Kwon, Suhee Kim, Ja-Hyun Jang, and Jong-Won Kim
Journal of Genetic Medicine 2021;18:38-43
Case Reports
Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh
Muhammad Mizanur Rahman and Kanij Fatema
Journal of Genetic Medicine 2021;18:44-47
The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
Jin A Jang, Young Bae Sohn, Jang Hoon Lee, and Moon Sung Park
Journal of Genetic Medicine 2021;18:48-54
West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy
Seul A Choi and Young Ok Kim
Journal of Genetic Medicine 2021;18:55-59
Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Soyoung Bae, Aram Yang, Ja-Hye Ahn, Jinsup Kim, and Hyun Kyung Park
Journal of Genetic Medicine 2021;18:60-63
A case of TBC1D32-related ciliopathy with novel compound heterozygous variants
Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, and Jong Hee Chae
Journal of Genetic Medicine 2021;18:64-69
Cohen–Gibson syndrome in a family: The first familial case report
Yeo Jin Kang and Young Ok Kim
Journal of Genetic Medicine 2021;18:70-74
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....
Female Carriers of Duchenne Muscular Dystrophy
Yu Na Cho, and Young-Chul Choi
Received October 11, 2013; Accepted December 20, 2013.
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.