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Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum by Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito
Published 2025-08-01Get full text
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TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project by Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Yaron Einhorn, Leslie Matalonga, Sergi Beltran, Antonio Novelli, Rita Selvatici, Fernanda Fortunato, Silvia Montanari, Maria Martinez-Fresno, Gulcin Gumus, Emanuele Agolini, Nicolas Garnier, Alessandra Ferlini, Enrico Bertini, Janbernd Kirschner
Published 2025-05-01Get full text
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