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Publications by Thierry Billette de Villemeur

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics
Genetics
2019English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2018English

Cover Image, Volume 39, Issue 1

Human Mutation
Genetics
2017English

Impact of Severe Polyhandicap Cared for at Home on French Informal Caregivers’ Burden: A Cross-Sectional Study

BMJ Open
Medicine
2020English

Impact of Severe Polyhandicap on Parents’ Quality of Life: A Large French Cross-Sectional Study

PLoS ONE
Multidisciplinary
2019English

Excellent Response to a Ketogenic Diet in a Patient With Alternating Hemiplegia of Childhood

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2014English

Creutzfeldt-Jakob Disease

The Lancet
Medicine
1996English

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