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1
Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidec
...
Kim Ye-Ji
Kim Hwa-Young, Jung Young-Hwa, Ko Jung-Min, Choi Chang-Won, Kim Jae-Hyun
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2023 Volume.20 No.1 25 ~ 29
2
Digenic or oligogenic mutations in presumed monogenic disorders: A review
Afif Ben-Mahmoud
Vijay Gupta, Kim Cheol-Hee, Lawrence C Layman, Kim Hyung-Goo
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2023 Volume.20 No.1 15 ~ 24
3
Fabry disease: current treatment and future perspective
Yoo Han-Wook
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2023 Volume.20 No.1 6 ~ 14
4
Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
Choi Yeon-Song
Choi David Whee-Young, Lee Se-Min
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2023 Volume.20 No.1 1 ~ 5