Veronique Stamboul-Darmency

Centre De Génétique Et Centre De Référence Anomalies Du Développement Et Syndromes Malformatifs De L'interrégion Grand Est
Dijon, France

Last Updated: 09/26/2026

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Found 9 publications

Neonatal arterial ischemic stroke in term or near-term newborns: prevalence and risk factors

Neonatal arterial ischemic stroke in term or near-term newborns: prevalence and risk factors

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: September 05, 2017

Neonatal arterial ischemic stroke: Review of the current guidelines

Neonatal arterial ischemic stroke: Review of the current guidelines

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: June 06, 2016

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

Journal: Clinical genetics

Published: November 12, 2015

Angelman syndrome: a case series assessing neurological issues in adulthood.

Angelman syndrome: a case series assessing neurological issues in adulthood.

Journal: European neurology

Published: October 29, 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Journal: American journal of human genetics

Published: April 09, 2014

C5orf42 is the major gene responsible for OFD syndrome type VI.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Journal: Human genetics

Published: July 23, 2013

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Journal: American journal of medical genetics. Part A

Published: April 19, 2013

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Journal: European journal of medical genetics

Published: November 28, 2012

Antenatal factors associated with perinatal arterial ischemic stroke.

Antenatal factors associated with perinatal arterial ischemic stroke.

Journal: Stroke

Published: June 29, 2012

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Last Updated: 09/26/2026