Discover open access scientific publications

Search, annotate, share and cite publications

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

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy