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Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 ( TRIM37 ) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive ...
8 Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France 9 Laboratoire de génétique chromosomique et moléculaire, CHU ...
Objective To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the National Disease Registration ...
1 Department of Laboratory Medicine and Pathobiology, St Michael’s Hospital Toronto, Canada 2 Cancer Research Program, The Hospital for Sick Children, Department of Immunology and Heart & Stroke ...
4 Arrhythmia Unit, Hospital Clinic Barcelona, University of Barcelona, Barcelona, Spain 5 Arrhythmia Unit, Cardiology Section, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain ...
Background Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial ...
1 Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands 2 Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical ...
2 Department of Experimental Medicine and Pathology, University “La Sapienza”, Rome 3 Section of Pediatric Cardiology, Department of Pediatrics, University “La Sapienza”, Rome 4 Division of Medical ...
a Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, Nebraska 68178, USA, b Human Cancer Genetics, The Ohio State University, ...
Background Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an ...
Correspondence to Dr Alexander Gheldof, Center of Medical Genetics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium; alexander.gheldof{at}uzbrussel.be During reproductive age, approximately ...
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