Research output

1. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

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

2. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

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

3. Expanding the clinical spectrum of biallelic ZNF335 variants

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

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