Aude Charollais

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Congenital Disorders of Glycosylation Type Ig Is Defined by a Deficiency in Dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl Mannosyltransferase

Isabelle Chantret, Thierry Dupré, Christophe Delenda et al. · Journal of Biological Chemistry · 2002 · 137 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

Obstetrical and neonatal characteristics vary with birthweight in a cohort of 100 term newborns with symptomatic arterial ischemic stroke

Stéphane Chabrier, Élie Saliba, Sylvie Nguyen The Tich et al. · European Journal of Paediatric Neurology · 2009 · 91 citations

Medicine, Obstetrics, Pediatrics +13

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

Alexandra Chadie, S. Radi, Laetitia Trestard et al. · Acta Paediatrica · 2008 · 58 citations · Full text

Medicine, Neuroscience, Pediatrics +17

Truncating variants of the <i>DLG4</i> gene are responsible for intellectual disability with marfanoid features

Sébastien Moutton, Ange‐Line Bruel, Mirna Assoum et al. · Clinical Genetics · 2018 · 24 citations

Life Sciences, Molecular Genetics, Neurobiology +17