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Publications by Dian Donnai

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

American Journal of Human Genetics
Genetics
2019English

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

American Journal of Human Genetics
Genetics
2019English

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

Frontiers in Molecular Neuroscience
Molecular NeuroscienceMolecular BiologyCellular
2020English

Oculofaciocardiodental and Lenz Microphthalmia Syndromes Result From Distinct Classes of Mutations in BCOR

Nature Genetics
Genetics
2004English

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