default author photo

Christel Thauvin

University of Dijon - Reference center “Intellectual disabilities from rare causes”

SCHOLARLY PAPERS

2

DOWNLOADS

129

TOTAL CITATIONS

0

Scholarly Papers (2)

Actions:
Email selected abstracts
1.

A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis

Number of pages: 13 Posted: 22 Jul 2022
Julian Delanne, Magali Lecat, Patrick Blackburn, Eric Klee, Constance Stumpel, Sander Stegmann, Servi Stevens, Caroline Nava, Delphine Heron, Boris Keren, Sonal Mahida, Sakkubai Naidu, Dusica Babovic-Vuksanovic, Johanna Herkert, Pernille Toerring, Maria Kibæk, Isabelle De Bie, Rolph Pfundt, Yvonne Hendriks, Lilian Bomme Ousager, Renee Bend, Hannah Warren, Steve Skinner, Michael Lyons, Charlotte Poe, Martin Chevarin, Thibaud Jouan, Aurore Garde, Quentin Thomas, Paul Kuentz, Emilie Tisserant, Yannis Duffourd, Christophe Philippe, Laurence Faivre and Christel Thauvin
University of Dijon - Reference center “Intellectual disabilities from rare causes”, affiliation not provided to SSRN, affiliation not provided to SSRN, Mayo Clinic, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Johns Hopkins University - Kennedy Krieger Institute, Johns Hopkins University - Kennedy Krieger Institute, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, Odense University Hospital, McGill University - McGill University Health Centre, affiliation not provided to SSRN, affiliation not provided to SSRN, Odense University Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN and University of Dijon - Reference center “Intellectual disabilities from rare causes”
Downloads 79 (823,616)

Abstract:

Loading...

BRWD3, Intellectual disability, macrocephaly, obesity

2.

Cardiogenetics and Uncertainty: Evaluation of Professional Vulnerability in France

Number of pages: 27 Posted: 17 May 2024
Léa Gaudillat, Léa Patay, Caroline Sawka, Amandine Baurand, Sophie Nambot, Camille Level, Gabriel Laurent, Jean-Christophe Eicher, Geraldine Bertaux, Sylvie Falcon Eicher, Charlotte Denis, Sarah Carvallo, Cécile Cazeneuve, Alexandre Janin, Gilles Millat, Christine Peyron, Christel Thauvin, Philippe CHARRON and Laurence Faivre
affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, Centre Georges-François Leclerc, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Dijon - Reference center “Intellectual disabilities from rare causes”, Université Paris Est Créteil - Sorbonne Université and affiliation not provided to SSRN
Downloads 50 (1,074,648)

Abstract:

Loading...

cardiogenetics, vulnerability, genomics, professionals, survey, France