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Emery S Elements Of Medical Genetics

Author : Peter D. Turnpenny
ISBN : UOM:39015060554188
Genre : Medical
File Size : 47. 11 MB
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Covers both the scientific basis and clinical applications of genetics. For this new edition, the content has been thoroughly updated to keep abreast of this fast-changing area, including molecular genetics, DNA technology, and ethics. It also features a new self-testing section, new clinical examples, and updated and improved clinical photographs. Offers a comprehensive, clinically relevant overview of the field with clear, concise text. Features "Elements" boxes at the end of the chapter that provide a bulleted chapter overview for the reader. Depicts rare diseases with a genetic basis in high-quality color and black-and-white photographs.

Elements Of Medical Genetics

Author : Alan E. H. Emery
ISBN : 0443045240
Genre : Medical
File Size : 71. 72 MB
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Updated and revised, with new illustrations, diagrams and clinical photographs. There is also new information on molecular biology and molecular genetics and it is in a larger format and colour has been added for the first time. It is a text for students in preclinical as well as clinical years.

Medical Genetics

Author : Lynn B. Jorde
ISBN : 9780323188371
Genre : Medical
File Size : 56. 92 MB
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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.

Emery And Rimoin S Essential Medical Genetics

Author : David L. Rimoin
ISBN : 9780124169821
Genre : Science
File Size : 88. 27 MB
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. 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. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

Oxford Desk Reference Clinical Genetics And Genomics

Author : Helen V. Firth
ISBN : 9780192519832
Genre : Medical
File Size : 29. 11 MB
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A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

Medical Genetics

Author : G. Bradley Schaefer
ISBN : 9780071819282
Genre : Medical
File Size : 83. 48 MB
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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.

Secondary Data Sources For Public Health

Author : Sarah Boslaugh
ISBN : 1139464477
Genre : Medical
File Size : 88. 22 MB
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Secondary data play an increasingly important role in epidemiology and public health research and practice; examples of secondary data sources include national surveys such as the BRFSS and NHIS, claims data for the Medicare and Medicaid systems, and public vital statistics records. Although a wealth of secondary data is available, it is not always easy to locate and access appropriate data to address a research or policy question. This practical guide circumvents these difficulties by providing an introduction to secondary data and issues specific to its management and analysis, followed by an enumeration of major sources of secondary data in the United States. Entries for each data source include the principal focus of the data, years for which it is available, history and methodology of the data collection process, and information about how to access the data and supporting materials, including relevant details about file structure and format.

Genetics And Genomics In Medicine

Author : Tom Strachan
ISBN : 9781317594307
Genre : Science
File Size : 79. 21 MB
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Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how genetics and genomics affect the whole spectrum of human health and disease. DNA technologies are explained, with emphasis on the modern techniques that have revolutionized the use of genetic information in medicine and are indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. Cancers are essentially genetic diseases and are given a dedicated chapter that includes new insights into its molecular basis and approaches to its detection gained from cancer genomics. Specific topics, including multiple examples of clinical disorders, molecular mechanisms, and technological advances, are profiled in boxes throughout the text.

Human Molecular Genetics

Author : Tom Strachan
ISBN : 9781136844072
Genre : Science
File Size : 24. 64 MB
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Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Exploring Personal Genomics

Author : Joel T. Dudley
ISBN : 9780199644483
Genre : Medical
File Size : 47. 82 MB
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This book provides a novel inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It opens with an introduction to genomics and the issues surrounding the use of genomic data, and then discusses the potential applications of this data using real examples and data sets.

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