Content: Genetic diseases: frequency, autosomal, sex-linked; Diagnostic techniques of genetic diseases: Biochemical tests, DNA probes, PCR; Genetic counselling; Inborn errors of metabolism: types and underlying defects, pre- and post-natal diagnosis; Bioinformatics and proteomics in genetic diseases diagnosis.
Introduction to Genes, DNA and Chromosomes
Introduction to Medical Genetics
Autosomal and Recessive Inherited Disorders
Inborn Errors of Metabolism involving Proteins
Inborn errors of Carbohydrate metabolism