Unveiling the role of FOXG1 in neurodevelopment and disease: a comprehensive analysis using neural organoids, imaging and Single Cell Sequencing
MOLECULAR DIAGNOSTICS IN AUTISM SPECTRUM DISORDER: NEXT GENERATION SEQUENCING AND FACIAL PHENOTYPING IN MEDICAL GENETICS
A systemic search for novel congenital disorders of Glycosylation type 1 (CDG-I), with a comprehensive evaluation of the clinical phenotypes.
Identifying antifibrotic targets in complementary disease models for Myhre syndrome, a Mendelian multisystemic and profibrotic disorder
Problem Behaviours and Major Depressive Disorder in Intellectual Disability and Autism: A Contribution of PET and MRI