Background Mainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA ...
NF2 -related schwannomatosis ( NF2 -SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop ...
2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
Background Current clinical approaches to inherited prostate cancer (PCa) risk rely on binary classification of pathogenic variant (PV) carrier status without accounting for gene-specific ...
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...
a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...
Correspondence to Professor Sahar Mansour, SW Thames Regional Genetics Service, St George's Hospital, London SW17 0RE, UK; smansour{at}sgul.ac.uk Primary lymphatic anomalies may present in a myriad of ...
3 Institute for Immunology & Infectious Diseases, Murdoch University, Perth, Australia 4 Centre for Comparative Genomics, Murdoch University, Perth, Australia Correspondence to Professor Steve D ...
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
Dr D Craig, Division of Psychiatry and Neuroscience, School of Medicine and Dentistry, Queen’s University Belfast, Whitla Medical Building, 97 Lisburn Road, Belfast BT9 7BL, Northern Ireland; ...
4 Department of Radiology, Addenbrooke’s NHS Trust, Cambridge, UK 5 Department of Audiology, Addenbrooke’s NHS Trust, Cambridge, UK Correspondence to: M P Snead Vitreoretinal Service, Box 41, ...
Correspondence to Dr Ben J H M Poorthuis, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Room F0-220, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands; ...
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