Product Description: Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course...read more

Product Description: Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period...read more

Product Description: Chromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic conditions in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder...read more

Product Description: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease...read more

Product Description: This authoritative reference provides expert discussions of the development, classification, diagnosis, and treatment of developmental disabilities-emphasizing research advances in genetics, molecular and cytogenetic testing, and molecular biological technologies for an improved understanding of the causes and factors that may contribute to these disorders...read more

Product Description: Chromosomale Mutationen sind eine der möglichen Ursachen für Veränderungen der Erbinformation. Neben grundsätzlichen Aspekten, wie Reparaturmechanismen der Zelle oder Ursachen von Chromosomenveränderungen, werden angewandte Aspekte, z...read more

Product Description: Human malformations, in particular those of the central nervous system, are no less perplexing today than they were ten years ago. However, the last decade has witnessed considerable progress in the diagnosis and treatment of these malformations...read more