1 Regional Genetics Service, A Floor, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB, Northern Ireland 2 Department of Medical Genetics, The Queen's University of Belfast, Lisburn Road, ...

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 Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, Netherlands 2 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University ...

Methods We analyse the molecular mechanisms underlying the FIX deficiency through in silico analysis and reproducing the c.459G>A (Val107Val) mutation in stable cell lines. Conformation and ...

Background Neurofibromatosis type 2 (NF2) is an autosomal dominant condition with high spontaneous mutation rate which predisposes to the development of multiple nerve sheath tumours (schwannomas), ...

McKusick-Kaufman syndrome (MKKS) is a rare, recessively inherited syndrome reported mainly in young children and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and ...

Department of Dermatology and the Center for Genetic Diseases of the Skin and Hair, Hadassah—Hebrew University Medical Center, Jerusalem, Israel Correspondence to Professor Abraham Zlotogorski, ...

2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...

1 Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK 2 Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK 3 Department of ...

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 ...