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 ...
Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
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, ...
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were ...
1 Center for Human Genome Variation and Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA 2 Department of Pediatrics, Section of Medical Genetics, Duke University ...
17 Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France 18 Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland Lynch syndrome ...
Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...
Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...
Background Previous studies assessing breast cancer risk in families with Lynch syndrome (LS) have yielded conflicting results. Furthermore, conclusions are limited by small sample size and few breast ...
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands ...
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