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Research output

1. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

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

2. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's

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

3. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

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

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