Bertrand Isidor
8PUBLICATIONS
320CO-AUTHORS
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Publications (8)
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|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Amandine Santini, Angelo Tognon, Anne-Claire Richard
|Sep 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.Hyoungjun Ham, Huie Jing, Ian T Lamborn
|Sep 13, 2024
A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease.Anne Molitor, Alexandre Lederle, Mirjana Radosavljevic
|Jul 08, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.Agnès Rötig, Pauline Gaignard, Giulia Barcia
|May 01, 2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.Pierre-Louis Lanvin, Dong Li, Solène Conrad
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Frequent Collaborators
3 joint publications
Nicolas Chatron
2 joint publications
Sébastien Küry
2 joint publications
Gaetan Lesca
2 joint publications
Brigitte Chabrol
2 joint publications
Stéphane Bézieau
2 joint publications
François Lecoquierre
2 joint publications
Kirsty McWalter
2 joint publications
Laurent Pasquier
2 joint publications
Marlène Rio
2 joint publications
Jill A Rosenfeld