Molecular pathology in clinical practice : genetics

摘要: Basics of Molecular Biology.- Pathology Methods.- Genetic Counseling.- Pedigree Analysis and Risk Assessment.- Bayesian Analysis.- Developmental Disabilities.- Neuromuscular Diseases.- Testing for Metabolic Disorders.- Fibroblast Growth Factor Receptor-Related Skeletal Cystic Fibrosis.- Deafness.- Coagulation Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, Rh Incompatibility.- Cardiovascular Disease.- Neurodegenerative Skin Connective Tissue Inherited Breast Cancer.- Familial Adenomatous Polyposis Turcot Peutz-Jeghers Syndromes.- Hereditary Nonpolyposis Colorectal Multiple Endocrine Neoplasia The Neurofibromatoses.- TP53 Mutation Li-Fraumeni Syndrome.- Von Hippel-Lindau Perentage Relationship Testing.- Laboratory Management.- From Research to Clinical Practice.