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| 1 |
Multi-omics techniques for the genetic and epigenetic analysis of rare diseases
Yeonsong Choi;David Whee-Young Choi;Semin Lee;
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Korean Society of Medical Genetics and Genomics
, v.20, no.1, pp.1-5,
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| 2 |
Fabry disease: current treatment and future perspective
Han-Wook Yoo;
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Korean Society of Medical Genetics and Genomics
, v.20, no.1, pp.6-14,
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| 3 |
Digenic or oligogenic mutations in presumed monogenic disorders: A review
Afif Ben-Mahmoud;Vijay Gupta;Cheol-Hee Kim;Lawrence C Layman;Hyung-Goo Kim;
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Korean Society of Medical Genetics and Genomics
, v.20, no.1, pp.15-24,
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| 4 |
Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidechain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
Ye Ji Kim;Sun Cho;Hwa Young Kim;Young Hwa Jung;Jung Min Ko;Chang Won Choi;Jaehyun Kim;
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Korean Society of Medical Genetics and Genomics
, v.20, no.1, pp.25-29,
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