Suggestions

Du même auteur

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Archive ouverte | Sabbagh, Quentin | CCSD

International audience. Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental d...

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

Archive ouverte | Haghshenas, Sadegheh | CCSD

International audience. Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (...

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Archive ouverte | Aref-Eshghi, Erfan | CCSD

International audience. Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expand...

Chargement des enrichissements...