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Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, et al.European Journal of Medical Genetics|July 3, 2019
Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectivesF Houdayer, O Putois, M L Babonneau, et al.Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.American Journal of Medical Genetics. Part A|April 23, 2015
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndromeA Bourchany, I Giurgea, J Thevenon, et al.European Journal of Medical Genetics|March 23, 2021
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patientsS Nambot, C Sawka, G Bertolone, et al.Clinical Genetics|February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing dataS Nambot, D Gavrilov, J Thevenon, et al.Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.Clinical Genetics|April 11, 2016
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangiaJ Thevenon, L Duplomb, S Phadke, et al.Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, et al.Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.Pageof 6