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Publications by Maggie Williams

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update

Journal of Medical Genetics

English

Clinical Genetic Testing Using a Custom-Designed Steroid-Resistant Nephrotic Syndrome Gene Panel: Analysis and Recommendations

Journal of Medical Genetics

English