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Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
Brain : a Journal of Neurology|September 4, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomaliesDelphine Héron, Anna Gerasimenko, Lisa Frugère, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxiaAurore Curie, Tatjana Nazir, Amandine Brun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2020
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineationSolveig Heide, Myrtille Spentchian, Stéphanie Valence, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
European Journal of Neurology|August 8, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic DiagnosisJean-Madeleine de Sainte Agathe, Pauline Monin, Florence Riccardi, et al.
American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
Journal of Global Health|July 27, 2023
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditionsVassilis Sideropoulos, Jo Van Herwegen, Ben Meuleman, et al.
Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.
Journal of Medical Genetics|April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
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