Publication Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Publication Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Publication Methylation of the LEP gene promoter in blood at 12 months and BMI at 4 years of age-a population-based cohort study.
