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What is dysmorphology? David Smith from the USA first used the term “dysmorphology” in the 1960’s to describe the study of human congenital malformations and patterns of birth defects. The subject is broad, and to be a dysmorphologist one needs to be knowledgeable in many areas, from embryolo ...
During the last years, it has become clear that copy number variations (CNVs) are much more prevalent than previously thought. This insight was made possible by the development of arrays to scan the human genomeIn this session the general principles of genome wide CNV detection by arrays will be ...
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 ar ...
The introduction to the 25th edition of the ESGM Medical Genetics Course.
The rapid and continuing progress in gene discovery for complex diseases is fuelling interest in the potential implications of this knowledge for clinical and public health practice. One of the prominent expectations is that preventive and therapeutic interventions can be more effectively administer ...
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