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Publications by Vivienne McConnell

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

A Unique Case of Hyperparathyroidism-Jaw Tumour Syndrome Due to a Previously Unreported Pathogenic Duplication Mutation of CDC73 Gene

Endocrine Abstracts

English

Corrigendum: Mutations in Smooth Muscle Α-Actin (ACTA2) Lead to Thoracic Aortic Aneurysms and Dissections

Nature Genetics

English