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Publications by Emma Hobson

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics
Genetics
2017English

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

Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity Stages

Value in Health
MedicineHealth PolicyPublic HealthOccupational HealthEnvironmental
2019English

Refining the Primrose Syndrome Phenotype: A Study of Five Patients With ZBTB20 De Novo Variants and a Review of the Literature

American Journal of Medical Genetics, Part A
Genetics
2019English

Harlequin Ichthyosis

Archives of Dermatology
2011English

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