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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel*, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie Coralie Cornet, Christine Coubes
*Corresponding author for this work
- Université de Franche-Comté
- Hôpital d'Enfants Armand Trousseau
- University College London
- McGill University
- IRCCS Ospedale pediatrico Bambino Gesù - Roma
- King Faisal Specialist Hospital and Research Centre
- University of Rome La Sapienza
- Martini Hospital
- CHR d'Orléans
- Ludwig Maximilian University of Munich
- INSERM UMR1231 GAD
- Université de Bourgogne
- University of Turin
- Imam Abdulrahman Bin Faisal University
- Université catholique de Louvain
- University of California at San Francisco
- CHU Montpellier
- Aix-Marseille Université
- Ospedale San Carlo, Potenza
- CHU de Reims
- Service de Cardiologie
- University Hospital
- University of Bonn
- Université de Caen
- University of California at San Diego
- Sorbonne Université
- Université Paris Cité
- University of Hamburg
- IRCCS Istituto Giannina Gaslini - Genova
- King Edward Memorial Hospital for Women
- Next Generation Genetic Polyclinic
- St. George's University of London
- Schneider Childrens Medical Center Israel
- Institut de pathologie et génétique (IPG)
- Hasbro Children's Hospital
- Royal Brompton and Harefield NHS Foundation Trust
- Imperial College London
- Perth Childrens Hospital
- University of Western Australia
- Université de Rennes
- Boston Children's Hospital
- Dalhousie University
- Groupement Hospitalier Sud Hospices Civils de Lyon
- TIGER, Lyon's Neuroscience Research Center, INSERM U1028
- University of Genoa
- University of Melbourne
- Royal Children's Hospital
- University of Pavia
- IRCCS Fondazione Istituto Neurologico Casimiro Mondino - Pavia
- Institut Alix de Champagne
- APHM
- Helmholtz Zentrum München - German Research Center for Environmental Health
- Technical University of Munich
- National Research Center
- Universite Claude Bernard Lyon 1
- Shahid Beheshti University of Medical Sciences
- Mashhad University of Medical Sciences
- Shahid Chamran University of Ahvaz
- Astana Medical University
- Kazakh National Medical University
- The International Institute of Postraduate Education
Research output: Contribution to journal › Article › peer-review
4
Scopus
citations