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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Kevin E. Glinton, Anna C.E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah Parikh, Deepali N. Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller
*Kontaktforfatter
- Baylor College of Medicine
- The University of Alabama at Birmingham
- HudsonAlpha Institute for Biotechnology
- Arnold Palmer Hospital for Children – Orlando Health
- CoxHealth
- University of Missouri
- National Human Genome Research Institute
- Royal Devon & Exeter NHS Foundation Trust
- Case Western Reserve University
- Ambry Genetics
- University Hospitals Bristol and Weston NHS Foundation Trust
- Cook Children's Hospital
- Leiden University
- Strasbourg University Hospital
- Robert Debré Hospital
- Epilepsihospitalet Filadelfia
- University of Amsterdam
- University of Southern California
- Nemours Children's Health System
- Gaithersburg
- Medical University of Bialystok
- Juliana Children's Hospital
- Charité - University Medicine Berlin
- Department of Genetic Diagnostics
- Oslo University Hospital
- Akershus University Hospital
- Pierre and Marie Curie University
- Public Hospital System of Paris
- Instituto de Ortopedia Infantil Roosevelt
- Pontifical Xavierian University
- AiLife Diagnostics
- Hvidovre Hospital
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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