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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
Few would dispute the truth of the statement `People are Different', but there is much controversy over why. This book authoritatively explains the methods used to understand human variation, and extends them far beyond the primary `nature or nurture' question. After chapters on basic statistics, biometrical genetics, matrix algebra and path analysis, there is a state-of-the-art account of how to fit genetic models using the LISREL package. The authors explain not only the assumptions of the twin method, but how to test them. The elementary model is expanded to cover sex limitation, sibling interaction, multivariate and longitudinal data, observer ratings, and twin-family studies. Throughout, the methods are illustrated by applications to diverse areas such as obesity, major depression, alcohol comsumption, delinquency, allergies, and common fears.
Essentials of Medical Genetics for Nursing and Other Health Professionals: An Interprofessional Approach is a concise introduction to genetics clinically applicable to nursing students as well as students in other healthcare professions.
The knowledge of genetics and the bioinformatics has increased rapidly over the past few decades. The application of this knowledge has become an integral part of patient care and the preventive thrust of modern medicine. The aetiology of the majority of disorders has some genetic component. The subject of genetics is gaining utmost importance in the medical science. 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. A simple and concise account of different techniques of genetics will help students understand them better. This book is not a comprehensive textbook of genetics. Instead, it takes a look at the basic concepts as well as interesting and clinically applicable aspects of genetics. This book on techniques of genetics emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables 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 student. 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. Bioinformatics, NGS Data analysis, Barcoding and Multiplexing, Whole genome sequence analysis, Gene bank, Genomic browers and Genomic batabases are some of the interesting topics that has been provided for the students. A knowledge of molecular genetics is essential to understand the latest developments in medicine. An attempt has been made to outline the fundamentals of molecular genetics so that the reader gets familiar with the terminologies and techniques used in this field. The students from various nonmedical background will also find this book useful in familiarizing them with the clinically applied aspects of genetics. To make it easy, text is supported with the flowchart.
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
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.
Using real data sets throughout, this text introduces the latest methods for analyzing high-dimensional survival data. With an emphasis on the applications of survival analysis techniques in genetics, it presents a statistical framework for burgeoning research in this area and offers a set of established approaches for statistical analysis. The book reveals a new way of looking at how predictors are associated with censored survival time and extracts novel statistical genetic methods for censored survival time outcome from the vast amount of research results in genomics.