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. 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. Self-assessment study questions aid in retention and review of key material. 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.
This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material.
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.
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Deletion 2q37 2q37 Wisconsin 3q24-q25 MBNL1 Wolf-Hirschhorn 4p Cri-du-chat 5p 7q11.23 Williams (WilliamsBeuren) ELN (Supravalvular aortic stenosis) LIMK1 (Neurological features) LangerÀGiedion 8q24.11 TRPS1 (Trichorhinophalangeal ...
Spanish version also available, ISBN: 84-8174-423-9
This highly popular textbook of medical genetics covers both the scientific basis and clinical applications of genetics. It remains well written and easy to understand -- two of its key...
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic ...
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 ...
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 ...
Wang L, McLeod HL & Weinshilboum RM (2011) Genomics and drug response. ... Naldini L (2011) Ex vivo gene transfer and correction for cell-based therapies. ... Pearson H (2009) Human genetics: one gene, twenty years.