List of works by Christina Nassif

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

scientific article published on 12 February 2018

De novo mutations in moderate or severe intellectual disability

scientific article

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

scientific article

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

scientific article published on 18 April 2017

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

scientific article published on 26 October 2017

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

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