Review Articles |
Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
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Yeonsong Choi, David Whee-Young Choi, and Semin Lee |
Journal of Genetic Medicine 2023;20:1-5 |
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Fabry disease: current treatment and future perspective
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Han-Wook Yoo |
Journal of Genetic Medicine 2023;20:6-14 |
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Digenic or oligogenic mutations in presumed monogenic disorders: A review
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Afif Ben-Mahmoud, Vijay Gupta, Cheol-Hee Kim, Lawrence C Layman, and Hyung-Goo Kim |
Journal of Genetic Medicine 2023;20:15-24 |
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Case Report |
Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 side-chain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
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Ye Ji Kim, Sun Cho, Hwa Young Kim, Young Hwa Jung, Jung Min Ko, Chang Won Choi, and Jaehyun Kim |
Journal of Genetic Medicine 2023;20:25-29 |
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