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List of works by Magalie S Leduc

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

scientific article

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

scientific article

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

scientific article

Phenotypic expansion in - a common cause of intellectual disability in females

scientific article published on 15 September 2018

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

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