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The oral-facial-digital syndromes are a heterogeneous group of rare developmental disorders characterized by defects in the face, oral cavity and digits. OFD type I (MIM 311200) is distinguishable because of its X-linked dominant inheritance with embryonic male lethality (Toriello, 1993). OFD1 is...

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 adminis...


A wide taxonomic and functional bacterial diversity has been demonstrated to be a strong booster for the reclamation of polluted sites. Hence bacteria monitoring is now a key issue in predicting and following the effectiveness of bioremediation processes, “in situ” as well as “ex situ”, during na...

Editorial European Journal of Human Genetics (2008)16, 403-404

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), ...

This resource contains materials for an course in genetic epidemiology. This presentation contains an introduction to segregation and Mendelian inheritance, the structure of genes, mutations,

Ppt lecture on population-based heath surveys and biobanks held on the ESF Workshop.

The major cell type in the blood circulation is the red blood cell or erythrocyte. These cells are highly specialized to carry out their main functions: the transport of oxygen from the lungs to the other parts of the body, and the transport of carbon dioxide from these tissues back to the lungs....

Netherlands Institute for Health Sciences (NIHES) - Research Training in Medicine and the Health Sciences Study Guide 2008-2009, Master of Science in Health Sciences & Doctor of Science programmes

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