1 Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Laboratory of Genetic Metabolic ...
*Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton University NHS Hospitals Trust, Coxford Road, Southampton SO16 5YA, UK †Department of Paediatric Surgery, Southampton General ...
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 ...
Background: According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours ...
The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties ...
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...
Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...
5 Molecular Medicine Unit, Institute of Child Health, London, UK 6 Behavioural and Brain Sciences Unit, Institute of Child Health, London, UK Correspondence to: Dr T Charman, Behavioural and Brain ...
Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...
1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...
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