ISSN (printed): 0340-6717. ISSN (electronic): 1432-1203.
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal welcomes articles in the areas of Gene structure and organization Gene expression Mutation detection and analysis Linkage analysis and genetic mapping Physical mapping Cytogenetics and Genomic Imaging Genome structure and organisation Disease association studies Molecular diagnostics Genetic epidemiology Evolutionary genetics Developmental genetics Genotype-phenotype relationships Molecular genetics of tumorigenesis Genetics of complex diseases and epistatic interactions and Bioinformatics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless they report entirely novel and unusual aspects of a topic clinical case reports cytogenetic case reports papers on descriptive population genetics articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described will normally not be accepted. The Journal will not normally consider for publication manuscripts that report merely the isolation map position structure and tissue expression profile of a gene of unknown function unless the gene is of unusual interest or is a candidate gene involved in a human trait or disorder. Data on novel pathological mutations may be submitted to Human Genetics Online the electronic mutation data submission system administered by Springer-Verlag (
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