Research output

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

   Research output: Research - peer-review › Article

2. Expanding the clinical spectrum of biallelic ZNF335 variants

   Research output: Research - peer-review › Article

3. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

   Research output: Research - peer-review › Article

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