Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...
Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
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 ...
5 Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Windmill Road, Headington, Oxford, OX3 7LD, UK Correspondence to: Kathryn J H ...
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 ...
1 Department of Obstetrics and Gynaecology, University Medical Centre, Nijmegen, The Netherlands 2 Department of Gastroenterology, University Medical Centre, Nijmegen, The Netherlands 3 Department of ...
Purpose and scope The aim of this position statement is to provide recommendations aimed at Canadian reproductive care clinicians and genetics professionals regarding the use of reproductive carrier ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
Correspondence to Hildegard Kehrer-Sawatzki, Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany; hildegard.kehrer-sawatzki{at}uni-ulm.de Conclusion These ...
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 ...
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...
a Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, Nebraska 68178, USA, b Human Cancer Genetics, The Ohio State University, ...
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