List of works by Care4Rare Canada Consortium

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

scientific article published on 2 December 2015

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

scientific article published on 18 August 2015

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