Showing results (1-10 of 27) with videos related to
Sort By:
Pageof 3
European Journal of Medical Genetics|April 22, 2009
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic featuresMarie-Reine Haddad, Cécile Mignon-Ravix, Pierre Cacciagli, et al.European Journal of Human Genetics : EJHG|July 16, 2015
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patientAffef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 17, 2017
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegenerationNathalie Villeneuve, Affef Abidi, Pierre Cacciagli, et al.European Journal of Human Genetics : EJHG|June 4, 2020
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyriaBilal El Waly, Cécile Mignon-Ravix, Pierre Cacciagli, et al.Molecular Cytogenetics|June 18, 2015
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disabilityNancy Choucair, Cecile Mignon-Ravix, Pierre Cacciagli, et al.Epilepsia|April 4, 2023
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variantCécile Mignon-Ravix, Florence Riccardi, Géraldine Daquin, et al.European Journal of Human Genetics : EJHG|August 5, 2010
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotypePierre Cacciagli, Marie-Reine Haddad, Cécile Mignon-Ravix, et al.Epilepsy Research|March 15, 2015
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disabilityAnne-Lise Poulat, Dorothée Ville, Julitta de Bellescize, et al.Journal of Medical Genetics|July 29, 2009
Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasiaCécile Mignon-Ravix, Pierre Cacciagli, Bilal El-Waly, et al.Journal of Medical Genetics|February 27, 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotypeMario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, et al.Pageof 3