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Publications by Richard Webster

Targeted Resequencing in Epileptic Encephalopathies Identifies De Novo Mutations in CHD2 and SYNGAP1

Nature Genetics

English

Pathogenic Abnormal Splicing Due to Intronic Deletions That Induce Biophysical Space Constraint for Spliceosome Assembly

American Journal of Human Genetics

English

Vamorolone Trial in Duchenne Muscular Dystrophy Shows Dose-Related Improvement of Muscle Function

English

Delayed Diagnosis of Congenital Myasthenia Due to Associated Mitochondrial Enzyme Defect

Neuromuscular Disorders

English

Cirrhosis Associated With Pyridoxal 5′-Phosphate Treatment of Pyridoxamine 5′-Phosphate Oxidase Deficiency

Internal Medicine

Molecular Biology

English

Acetylcholine Receptor Δ Subunit Mutations Underlie a Fast-Channel Myasthenic Syndrome and Arthrogryposis Multiplex Congenita

Journal of Clinical Investigation

English

Ellipsis Marks an Important Omission

English

Animal Camouflage: Disentangling Disruptive Coloration From Background Matching

English

Geostatistics for Environmental Scientists

English