The Journal publishes papers reporting original investigations in the field of human and medical genetics. The scope of the journal includes biochemical, cell biological, molecular genetics and structural biological studies of enzyme and other protein deficiencies, and fundamental investigations of the pathogenesis of inherited and acquired disorders. In addition to basic investigations, practical advances in the biochemical and molecular diagnoses of human diseases will be considered valuable contributions

Abstracts and journal information can be found at http://www.ejmhg.eg.net