Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at studentconsult.com along with 200 additional USMLE-style questions for self-assessment. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Student Consult eBook version included with purchase. This enhanced eBook experience allows access to 200 additional USMLE questions, as well as new materials (outlined above) designed to produce a more rounded learning experience.
The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.
Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic ...
Nussbaum, RL, Mclnnes, RR and Willard, HF. Thompson and Thompson's Genetics in Medicine, 7th edn. Philadelphia: Saunders, 2007. Sadler, TW. Langman's Medical Embryology, 12th edn. Baltimore, Philadelphia: Lippincott Williams and Wilkins ...
"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome.
This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques.
However, most of the medical students find this subject difficult to understand and therefore, neglect it. The aim of this book is to present the text in such a way that it provides the clear and conceptual understanding of the subject.
The book focuses sharply on concepts that are most applicable to clinical practice. Ethics sections in each chapter discuss ethical issues facing today's practitioner, such as counseling, risk assessment, and testing.
This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.
It is easy to get lost in the forest for the trees since genetics lends itself anywhere from a basic foundation of DNA and its parts, to a more complicated and nuanced understanding of how these parts work together, what happens when things ...
Johnson D, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday V (2006) Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.