Background SLC29A3-related syndromes (SLC29A3-RS) are characterised by severe and multiorgan involvement that has a severe impact on the quality of life of the affected persons and therefore merit ...
1 Public Health Genetics Program, University of Washington, Seattle, WA 98195, USA 2 Department of Pathology, University of Washington, Seattle, WA 98195, USA 3 Department of Medicine, University of ...
Correspondence to Dr Christian P Schaaf, Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Baylor College of Medicine, 1250 ...
Background and objectives Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The ...
Correspondence to Dr Alessandro Mussa, Department of Public Health and Pediatrics, University of Torino, 10126 Torino, Italy; alessandro.mussa{at}unito.it Background Most cases of Beckwith-Wiedemann ...
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 ...
Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, ...
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; ...
5 Experimental and Molecular Cardiology Group, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, and The Netherlands Interuniversity Cardiologic Institute (ICIN), Catharijnesingel 52, 3501 ...
2 Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA Panic ...
Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK Correspondence to Professor A O M Wilkie, Weatherall Institute of Molecular Medicine, University of Oxford, John ...
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