Marie Deprez
Gosselies, WAL, Belgium
Last Updated: 09/26/2026
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Found 13 publications
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature.
Journal: European journal of medical genetics
Published: June 23, 2021
A second case of Okamoto syndrome caused by HNRNPK mutation.
Journal: American journal of medical genetics. Part A
Published: December 31, 2019
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Journal: American journal of human genetics
Published: September 23, 2019
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Journal: European journal of medical genetics
Published: October 03, 2017
PRRT2 mutation and infantile convulsions
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: January 13, 2017
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Journal: Brain : a journal of neurology
Published: November 08, 2016
Electrical stimulation of the bed nucleus of the stria terminalis reduces anxiety in a rat model.
Journal: Translational psychiatry
Published: August 17, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Journal: Journal of medical genetics
Published: March 03, 2016
Human cytomegalovirus and primary intracranial tumours: frequency of tumour infection and lack of correlation with systemic immune anti-viral responses.
Journal: Neuropathology and applied neurobiology
Published: February 03, 2014
A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
Journal: European journal of medical genetics
Published: July 17, 2013
Last Updated: 09/26/2026