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Research output

1. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

   Research output: Contribution to journal › Article › Academic › peer-review

2. Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri

   Research output: Contribution to journal › Article › Academic › peer-review

3. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

   Research output: Contribution to journal › Article › Academic › peer-review

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