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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
6월 28, 2024
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논문 (Publication)
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation
6월 28, 2024
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논문 (Publication)
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
6월 28, 2024
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논문 (Publication)
Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant
6월 28, 2024
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논문 (Publication)
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome
6월 28, 2024
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논문 (Publication)
Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature
6월 26, 2024
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논문 (Publication)
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation
6월 26, 2024
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논문 (Publication)
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
6월 26, 2024
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논문 (Publication)
전자증권 전환 대상 주권 권리자(주주) 보호 및 조치사항 안내
6월 25, 2024
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투자 (IR)
주식명의개서정지공고
6월 25, 2024
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투자 (IR)
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