Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Silvia Azzarello-Burri

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Dosage Changes of MED13L Further Delineate Its Role in Congenital Heart Defects and Intellectual Disability

European Journal of Human Genetics

English

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Molecular Syndromology

English