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Seminars in Cell & Developmental Biology|February 20, 2021
Chromoanagenesis, the mechanisms of a genomic chaosF Pellestor, J B Gaillard, A Schneider, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 3, 2015
[Kabuki syndrome: Update and review]M Arnaud, M Barat-Houari, V Gatinois, et al.Human Reproduction (Oxford, England)|October 23, 2014
Discordant sex in monozygotic XXY/XX twins: a case reportG Tachon, G Lefort, J Puechberty, et al.American Journal of Medical Genetics. Part A|November 25, 2024
De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic CounselingC Racine, P Callier, R Touraine, et al.Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.Prenatal Diagnosis|January 8, 2014
A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomesJ Besseau-Ayasse, C Violle-Poirsier, A Bazin, et al.Pageof 1