,

First Report of DAVID Syndrome in a Korean Boy: Unraveling the Clinical Spectrum

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신생아 유전자 스크리닝의 임상적, 유전학적, 윤리적 측면

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Genome screening in pediatric population:Experience in the clinic

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무증상 신생아 대상 선별유전자검사의 문제점

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Identification of contiguous gene deletions of SLC6A8, BCAP31, and ABCD1 in a Korean infant presenting with hypotonia, failure to thrive, hearing loss, and hepatitis