Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Emma Kivuva

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

Microdeletion 9q22.3 Syndrome Includes Metopic Craniosynostosis, Hydrocephalus, Macrosomia, and Developmental Delay

American Journal of Medical Genetics, Part A

English