[카테고리:] 논문 (Publication)

Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

6월 28, 2024

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안 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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안 논문 (Publication)
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation

6월 26, 2024

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안 논문 (Publication)
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14

6월 26, 2024

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안 논문 (Publication)