Research output

  1. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

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

  2. De novo variants in the PABP domain of PABPC1 lead to developmental delay

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

  3. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

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

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ID: 44532