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Diagnosis of Schaaf-Yang syndrome in children with developmental delay by exome sequencing
7월 2, 2024
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Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders
7월 2, 2024
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환자용 샘플 리포트
6월 30, 2024
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유전자검사 동의서
6월 30, 2024
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샘플 의뢰서
6월 30, 2024
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3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints
6월 28, 2024
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Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations
6월 28, 2024
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Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
6월 28, 2024
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A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features
6월 28, 2024
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Clinical and molecular spectra of BRAF-associated RASopathy
6월 28, 2024
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