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| 1 |
Genetic variations affecting response of radiotherapy
Choi, Eun Kyung;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.1-6,
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| 2 |
Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot-Marie-Tooth disease
Kim, Min Jee;Park, Sun Ok;Hong, Ye Seul;Park, Eun A;Lee, Yu Bin;Choi, Byung-Ok;Lee, Kyung-Ah;Yu, Eun Jeong;Kang, Inn Soo;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.7-13,
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| 3 |
Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report
Yu, Eun Jeong;Kim, Min Jee;Park, Eun A;Hong, Ye Seul;Park, Sun Ok;Park, Sang-Hee;Lee, Yu Bin;Yoon, Tae Ki;Kang, Inn Soo;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.14-21,
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| 4 |
Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
Yoon, Ji Hye;Kim, Ka Young;Lee, Sang-Yun;Kim, Soo Yeon;Lee, Young Ah;Ki, Chang-Seok;Song, Junghan;Shin, Choong Ho;Lee, Yun Jeong;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.22-26,
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| 5 |
A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
Kim, Sejin;Kim, Sungsoo;Kim, Namhee;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.27-31,
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| 6 |
From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
Yoo, Sukdong;Lee, Jun;Kim, Minji;Yoon, Ju Young;Cheon, Chong Kun;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.32-37,
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| 7 |
A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant
Choi, WooChan;Hwang, Yang-Ha;Lee, Jong-Mok;
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Korean Society of Medical Genetics and Genomics
, v.19, no.1, pp.38-41,
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