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7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...
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 Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands 2 Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical ...
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 ...
Background Hereditary colorectal cancer (HCRC) syndromes account for 10% of colorectal cancers but remain underdiagnosed. This feasibility project tested the utility of an artificial ...
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 ...
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, ...
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 ...
Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome ...
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