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Journal of Genetic Medicine 2022;19:1-41
Review Article
Genetic variations affecting response of radiotherapy
Eun Kyung Choi
Journal of Genetic Medicine 2022;19:1-6
Original Article
Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease
Min Jee Kim, Sun Ok Park, Ye Seul Hong, Eun A Park, Yu Bin Lee, Byung-Ok Choi, Kyung-Ah Lee, Eun Jeong Yu, and Inn Soo Kang
Journal of Genetic Medicine 2022;19:7-13
Case Reports
Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report
Eun Jeong Yu, Min Jee Kim, Eun A Park, Ye Seul Hong, Sun Ok Park, Sang-Hee Park, Yu Bin Lee, Tae Ki Yoon, and Inn Soo Kang
Journal of Genetic Medicine 2022;19:14-21
Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
Ji Hye Yoon, Ka Young Kim, Sang-Yun Lee, Soo Yeon Kim, Young Ah Lee, Chang-Seok Ki, Junghan Song, Choong Ho Shin, and Yun Jeong Lee
Journal of Genetic Medicine 2022;19:22-26
A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
Sejin Kim, Sungsoo Kim, and Namhee Kim
Journal of Genetic Medicine 2022;19:27-31
From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
Sukdong Yoo, Jun Lee, Minji Kim, Ju Young Yoon, and Chong Kun Cheon
Journal of Genetic Medicine 2022;19:32-37
A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant
WooChan Choi, Yang-Ha Hwang, and Jong-Mok Lee
Journal of Genetic Medicine 2022;19:38-41
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.