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As of 1 January 2025, the Journal of Medical Genetics (JMG) has become the official journal of the British Society for Genetic Medicine (BSGM), an exciting new partnership will strengthen the exchange ...
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 ...
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, ...
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 ...
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 ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK Professor P F Chinnery, Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, ...
Correspondence to Dr Marta Futema; mfutema{at}sgul.ac.uk Conclusions The prevalence and gene distribution of FH-causing variants in 100KGP are consistent with UK estimates. Differences in variant ...
Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...
7 Centre of Infection, St George’s Hospital, University of London, London SW17, UK 8 Hepatology Division, Imperial College Faculty of Medicine, St Mary’s Hospital, London W2, UK 9 Wellcome Trust ...
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