نتایج جستجو برای: medical genetics

تعداد نتایج: 664143  

2005
Katrien Janssens Filip Vanhoenacker Maryse Bonduelle Leon Verbruggen Lionel Van Maldergem Stuart Ralston Nuria Guañabens Nicola Migone Shlomo Wientroub Maria Teresa Divizia Carsten Bergmann Chris Bennett Suat Simsek Serge Melançon Tim Cundy Wim Van Hul

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium Department of Radiology, University Hospital Antwerp, Antwerp, Belgium Department of Medical Genetics, University Hospital of Brussels, Brussels, Belgium Department of Rheumatology, University Hospital of Brussels, Brussels, Belgium Centre of Human Genetics, Institute of Pathology and Genetics, Loverval, Belgium Rheumatic D...

2004
STEPHEN WOOD

Human chromosome 8 is perhaps best known for its involvement in Burkitt's lymphoma and as the location of the tissue plasminogen activator gene, PLAT, which has been genetically engineered to provide a natural fibrinolytic product for emergency use in cardiac disease. Since chromosome 8 represents about 5% of the human genome, we may expect it to carry about 5% of human gene loci. This would co...

Journal: :The Ohio journal of science 1946
L H SNYDER

Journal: :The Ulster Medical Journal 1969

Journal: :The Ulster Medical Journal 2001
N. C. Nevin

The genetic revolution began in 1953 when Crick and Watson proposed the double-helix structure of DNA. On 26th June 2000, the first draft of the 3.2 billion bases of DNA (the human genome) was made public. The completion of the sequencing of human DNA, undoubtedly the greatest biological achievement will have major implications for the future direction of medical genetics and medicine. The prac...

Journal: :Journal of medical genetics 1990
T Jenkins

Medical practice in South Africa is firmly grounded in the British tradition. The country's first medical faculty was established at the South African College (soon to become the University of Cape Town) in 1917 and, although the second followed in Johannesburg three years later, another 23 years. were to elapse before another came into being. Today there are seven medical schools (eight if one...

2016
Christopher A. Cassa Donate Weghorn Daniel J. Balick Daniel M. Jordan David Nusinow Kaitlin E. Samocha Anne O'Donnell Luria Daniel G. MacArthur Mark J. Daly David R. Beier Shamil R. Sunyaev Shamil Sunyaev David Beier

Brigham and Women’s Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Program ...

2013
Yvonne Wallis Stewart Payne Ciaron McAnulty Danielle Bodmer Erik Sister Kathryn Robertson David Moore Stephen Abbs Zandra Deans Andrew Devereau

1. West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom. 2. Kennedy-Galton Centre (NW Thames) Regional Genetics Centre, Level 8V, Northwick Park & St Mark’s Hospitals, Watford Road, Harrow, HA1 3UJ, United Kingdom. 3. Northern Genetics Service, Institute of Human Genetics, Central Parkway, Newcastle-u...

2010
Peter K. Hatemi Nathan A. Gillespie Lindon J. Eaves Brion S. Maher Bradley T. Webb Andrew C. Heath Sarah E. Medland David C. Smyth Harry N. Beeby Scott D. Gordon Enda M. Byrne Nicholas G. Martin

Peter K. Hatemi United States Studies Centre, University of Sydney and Queensland Institute of Medical Research Nathan A. Gillespie Virginia Institute for Psychiatric and Behavioral Genetics Lindon J. Eaves Virginia Institute for Psychiatric and Behavioral Genetics Brion S. Maher Virginia Institute for Psychiatric and Behavioral Genetics Bradley T. Webb Virginia Institute for Psychiatric and Be...

2013
Alejandro A Schäffer

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 only dozens of human disease phenotypes with evidence for DI in some pedigrees. The advent of high-throughput sequencing (HTS) has made it simpler to identify monogenic disease causes and could sim...

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