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Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon
7월 2, 2024
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The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
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A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report
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