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METHODOLOGICAL WORKSHOP on the Rationing of the Hospital Resources in Europe and North America. The Case of Critical Care Beds. Given during the First Summer Course in Comparative Health.
Despite widespread variation among health care systems, at their base they represent variants or combinations of a limited number of types. As with political systems, the comparative analysis of health policy often uses typologies of health systems to help capture the institutional context of health ...
This is the 24th edition of the European School of Genetic Medicine annual course in Medical Genetics. Info on the 2012 edition can be found on www.eurogene.org
A lecture on Oligogenic Disorders, given by Prof. Nico Katsanis during the 2011 ESGM Medical Genetics Course
People tend to see genetics as raising uniquely sensitive ethical issues. Whether that view is right or wrong, it does mean that as working geneticists we have to be specially sensitive to the ethical implications of our work. Although we all subscribe to general principles of ethical conduct, somet ...
Craniofacial malformations affecting head and face are a primary cause of infant mortality and can result in severe functional, aesthetical, and social consequences for affected individuals and their families. Anomalies include ossification defects of facial and cranial bones, jaw deformities, malfo ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...
A growing number of human diseases are associated with the expansion of simple sequence repeats within the transcribed region of the gene (1-3). In most cases the expansion is of a trinucleotide repeat, often, CAG or CGG, but some disease are associated with the expansion of tetranucleotide (4), pen ...
The recent study of different connective tissue diseases and their homologous mouse models have dramatically altered our understanding of their pathogenesis. A major breakthrough was realized with the study of mouse model of Marfan syndrome (MFS). The study of emphysema development in a fibrillin-1 ...
There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we are ...
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