Research output

  1. Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations

    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. Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

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