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 ...
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 ...
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 ...
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 ...
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 ...