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Fetal Diagnosis and Therapy|January 24, 2023
Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging FeaturesMona Massoud, Maude Chollet, Sara Cabet, et al.
European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girlNadia Boutry-Kryza, Dorothée Ville, Audrey Labalme, et al.
Epilepsia Open|October 16, 2023
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literatureGianni Cutillo, Silvia Masnada, Gaetan Lesca, et al.
Prenatal Diagnosis|February 20, 2026
Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic CriteriaLéa Schieffer, Catherine Garel, Laurent Guibaud, et al.
Neurology|May 10, 2013
Autoimmune limbic encephalopathy and anti-Hu antibodies in children without cancerJérôme Honnorat, Adrien Didelot, Evgenia Karantoni, et al.
Cells|October 27, 2023
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170RYonika A Larasati, Gonzalo P Solis, Alexey Koval, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Mosaic 18q21.2 deletions including the TCF4 gene: a clinical reportMassimiliano Rossi, Audrey Labalme, Marie-Pierre Cordier, et al.
Epilepsia|July 19, 2011
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsCyril Mignot, Marie-Laure Moutard, Oriane Trouillard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 27, 2017
Outcome of isolated agenesis of the corpus callosum: A population-based prospective studyVincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, et al.
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