Refreshing results…
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
UploadPathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome
Download from doi.orgA complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Download from doi.orgA framework for an evidence-based gene list relevant to autism spectrum disorder
Download from www.nature.comThe phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Download from www.nature.comThe complex behavioral phenotype of 15q13.3 microdeletion syndrome
UploadMissing publications? Search for publications with a matching author name.