56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
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Background Copy number variants (CNVs) associated with late-onset medical conditions are rare but important secondary findings in chromosomal microarray analysis (CMA) performed during pregnancy. Here ...
Correspondence to Professor Johannes Häberle, Division of Metabolism, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich 8032, Switzerland; Johannes.haeberle{at}kispi.uzh.ch Background ...
1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and ultimately fatal disorder for which there is no cure. While the disease is by definition idiopathic, accumulating evidence, including ...
3 Latin American Collaborative Study of Congenital Malformations (ECLAMC), Department of Genetics, Federal University of Rio de Janeiro, Rio de Janeiro, RJ, Brazil 4 Latin American Collaborative Study ...
a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
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