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Valérie Désilets

Centre Hospitalier Universitaire de Sherbrooke

3

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A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations†

2017 Journal of Bone and Mineral Research
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

2016 Orphanet Journal of Rare Diseases
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Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesis.

2015 Endocrinology
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