Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Kimberly Amburgey

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

American Journal of Human Genetics

English

a Novel Intronic Mutation in MTM1 Detected by RNA Analysis in a Case of X-Linked Myotubular Myopathy

Neurology: Genetics

English