Search filters

List of works by Christine Massicotte

De novo mutations in moderate or severe intellectual disability

scientific article

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

Loss-of-function de novo mutations play an important role in severe human neural tube defects

scientific article published on 24 March 2015

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

Paulina is supported by:

About Paulina

Help