Latest publications View all (21) »

1. E-pub ahead of print

   Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

   Research output: Contribution to journal › Journal article › Research › peer-review

2. E-pub ahead of print

   Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

   Research output: Contribution to journal › Journal article › Research › peer-review

3. E-pub ahead of print

   Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

   Research output: Contribution to journal › Journal article › Research › peer-review