2 Key Laboratory of Cellular and Molecular Evolution and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China Background: A single ...

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...

Background The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi ...

Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...

1 Department of Medical Genetics, Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, British Columbia, Canada 2 Department of Clinical Genetics, Centre for Human ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.

Background Microsatellite instability-high (MSI-H) tumour patients generally have a better prognosis than microsatellite-stable (MSS) ones due to the large number of non-synonymous mutations. However, ...

3 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands 4 Centre for Rare Diseases and Personalised Medicine and School of Clinical and Experimental Medicine, College of ...

1 Department of Visual Neuroscience, Faculty of Medicine, Imperial College London, London, UK 2 Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, UK 3 ...

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, ...

2 The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel Correspondence to Professor Ruti Parvari, Department of Microbiology, Immunology and ...

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 ...