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