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Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
Berta Estévez-Arias, Leslie Matalonga, Delia Yubero, Kiran Polavarapu, Anna Codina, Carlos Ortez, Laura Carrera-García, Jesica Expósito-Escudero, Cristina Jou, Stefanie Meyer, Ozge Aksel Kilicarslan, Alberto Aleman, Rachel Thompson, Rebeka Luknárová, Anna Esteve-Codina, Marta Gut, Steven Laurie, German Demidov, Vicente A. Yépez, Sergi Beltran
- Sant Joan de Déu Hospital
- Institut de Recerca Sant Joan de Déu
- Centro Nacional de Análisis Genómico (CNAG)
- Universitat de Barcelona
- CIBER de Enfermedades Raras (CIBERER)
- University of Ottawa
- University Medical Center
- The Ottawa Hospital
- Technical University of Munich
- University of Tübingen
- Helmholtz Zentrum München German Research Center for Environmental Health
- Newcastle Hospitals NHS Foundation Trust
- ERN ITHACA
Research output: Contribution to journal › Article › peer-review