ISSN (printed): 0009-9163. ISSN (electronic): 1399-0004.
The journal emphasizes research related to molecular approaches to genetic disease and the translation of these advances for the practising geneticist. The journal focuses on understanding how changes in specific genes may result in an altered phenotype and how knowledge of these changes may result in new approaches to therapy. Specific clinical descriptions adding to the present body of knowledge will also be considered. In addition the social ethical and psychological of aspects human genetics are covered. This journal fills the niche of linking the lab to the medical clinic. Proposals for mini-review articles of interest to the medical genetics community are welcome.
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