Medical Genetics At A Glance

Author: Dorian J. Pritchard
Editor: John Wiley & Sons
ISBN: 1118689011
File Size: 80,49 MB
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Medical Genetics at a Glance covers the core scientificprinciples necessary for an understanding of medical genetics andits clinical applications, while also considering the socialimplications of genetic disorders. This third edition has been fully updated to include the latestdevelopments in the field, covering the most common geneticanomalies, their diagnosis and management, in clear, concise andrevision-friendly sections to complement any health sciencecourse. Medical Genetics at a Glance now has a completely revisedstructure, to make its content even more accessible. Other featuresinclude: • Three new chapters on Gene Identification, The Biologyof Cancer, and Genomic Approaches to Cancer • A much extended treatment of BiochemicalGenetics • A completely revised chapter on The Cell Cycle,explaining principles of biochemistry and genetics which arefundamental to understanding cancer causation • Two new chapters on Cardiac DevelopmentalPathology • An extended Case Studies section Providing a broad understanding of one of the most rapidlyprogressing topics in medicine, Medical Genetics at a Glanceis perfect for students of medicine, molecular biology, geneticsand genetic counselling, and is a previous winner of a BMAAward.

Medical Genetics At A Glance Epz

Author: Dorian Pritchard
Editor:
ISBN: 9781405125116
File Size: 71,84 MB
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Medical Genetics At A Glance

Author:
Editor:
ISBN: 9781405176460
File Size: 22,45 MB
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Medical Genetics

Author: Lynn B. Jorde, PhD
Editor: Elsevier Health Sciences
ISBN: 0323188354
File Size: 54,16 MB
Format: PDF
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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. 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.

Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics

Author: Reed E. Pyeritz
Editor: Academic Press
ISBN: 0128126833
File Size: 50,48 MB
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Emery S Elements Of Medical Genetics E Book

Author: Peter D Turnpenny
Editor: Elsevier Health Sciences
ISBN: 0702066893
File Size: 13,14 MB
Format: PDF, Kindle
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Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery’s enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge. Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics •Interactive self-assessment questions •Case-based questions •Online hyperlinks to important genetics websites and clinical databases. •Update of clinical figures to include more full-colour images •An extensive glossary of terms •Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures •Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders. •Elements boxes at the end of each chapter summarizing the basics at a glance.

Clinical Genetics At A Glance

Author: Neeta Lakhani
Editor: Wiley-Blackwell
ISBN: 9781119240952
File Size: 31,72 MB
Format: PDF, Mobi
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Human Genetics And Genomics Includes Wiley E Text

Author: Bruce R. Korf
Editor: John Wiley & Sons
ISBN: 0470654473
File Size: 22,76 MB
Format: PDF, Kindle
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This text clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression.Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, single gene disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision.

Emery And Rimoin S Principles And Practice Of Medical Genetics

Author: Alan E. H. Emery
Editor:
ISBN: 9780443064340
File Size: 65,22 MB
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Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics

Author: Reed E. Pyeritz
Editor: Academic Press
ISBN: 0128152370
File Size: 56,97 MB
Format: PDF
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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. 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 testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Human Genetics And Genomics

Author: Bruce R. Korf
Editor: John Wiley & Sons
ISBN: 1118537661
File Size: 39,70 MB
Format: PDF
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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Principles And Practice Of Medical Genetics

Author: David L. Rimoin
Editor: Churchill Livingstone
ISBN: 9780443068706
File Size: 30,10 MB
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Text with Continually Updated Online Reference! The most definitive and trusted reference in medical genetics is back-complete with state-of-the-art web site! The fifth edition of this comprehensive yet practical resource emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world's most trusted authorities in medical genetics. The E-dition features the 5th edition of the textbook, additional new images, weekly updates, and more! With the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies, Principles and Practice of Medical Genetics will be an invaluable clinical tool for the practicing physician. Bridges the gap between high-level molecular genetics and individual application with practical, clinically oriented information. Includes information on analysis, interpretation, potential problems, and other issues that directly relate to the practicing geneticist. Addresses sensitive issues that may be encountered in practice like carrier screening, prediction, confidentiality, liability, and more. Features contributions from many new authors-The "best and brightest" in the field. Contains a wealth of new information on the human genome, the genetic and molecular basis of disease, and much more. Regular updates from experts in the field, so Emery and Rimoin's stays current year after year. The full text and illustrations - fully searchable - to save time when looking for a fact quickly. An image library, downloadable to PowerPoint, to enhance presentations or lectures. Medline-linked references and direct links to full-text articles, where available, to expand access to important research. Drug information from Mosby's Drug Consult . . . and much more. Your purchase entitles you to access the web site until the next edition is published, or until the current edition is no longer offered for sale by Elsevier, whichever occurs first. If the next edition is published less than one year after your purchase, you will be entitled to online access for one year from your date of purchase. Elsevier reserves the right to offer a suitable replacement product (such as a downloadable or CD-ROM-based electronic version) should access to the web site be discontinued.

Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics

Author: Reed E Pyeritz
Editor: Academic Press
ISBN: 9780128125328
File Size: 49,61 MB
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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In this Volume, Cardiovascular, Respiratory, and Gastrointestinal Disorders, leading international contributors examine the genetics of cardiovascular, respiratory, and gastrointestinal disorders in-depth, with emphasis on understanding the genetic determinants of these disorders and identifying pathways for diagnosis, prevention, and disease management that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition, bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Offers pathways for diagnosis, prevention, and disease management Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

Medical Ethics Law And Communication At A Glance

Author: Patrick Davey
Editor: John Wiley & Sons
ISBN: 1119266165
File Size: 14,19 MB
Format: PDF
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Medical Ethics, Law and Communication at a Glance presents a succinct overview of these key areas of the medical curriculum. This new title aims to provide a concise summary of the three core, interlinked topics essential to resolving ethical dilemmas in medicine and avoiding medico-legal action. Divided into two sections; the first examines the ethical and legal principles underpinning each medical topic; while the second focuses on communication skills and the importance of good communication. Medical Ethics, Law and Communication at a Glance offers an accessible introduction to the fundamentals of good medical practice, and will provide indispensable support for undergraduate medical students and nurses, as well as newly qualified healthcare professionals.

Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics

Author: Reed E Pyeritz
Editor: Academic Press
ISBN: 9780128125342
File Size: 31,67 MB
Format: PDF, Mobi
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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

Medical Sciences At A Glance

Author: Jakub Scaber
Editor: John Wiley & Sons
ISBN: 1118809459
File Size: 14,56 MB
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This easy to use workbook covers all the basic sciences inclinical context, and includes the full range of question typesused in medical school. It offers comprehensive advice on how totackle tricky examinations, how to deal with question types fromSAQs to essays, and will stimulate abstract skills like criticalthinking and the ability to deliver the key facts. Ideal for the pre-clinical years and USMLE candidates,Medical Sciences at a Glance: Practice Workbookfeatures: • An introductory section featuring step-by-stepguidance on exam technique and papers • Over 390 questions of varying formats - and fullexplanations to the answers • A topic-based structure reflecting vital foundationconcepts, including anatomy, physiology, pathology andpharmacology Medical Sciences at a Glance: Practice Workbook meets theneeds of medical students with a spectrum of educational approachesin mind. Whatever your course type, working through this book willgive you the advantage when it comes to basic science exams.

Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics

Author: Reed E. Pyeritz
Editor: Academic Press
ISBN: 0128126825
File Size: 42,83 MB
Format: PDF, Docs
Read: 6362
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For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume fully addresses medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods. Provides genetic researchers, students, and health professionals with new and updated chapters on the genetic basis of and treatment pathways for red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field and articles to stay up-to-date on the latest developments in the field

Medical Biochemistry At A Glance

Author: J. G. Salway
Editor: John Wiley & Sons
ISBN: 1118292405
File Size: 10,26 MB
Format: PDF, ePub, Mobi
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Offering a concise, illustrated summary of biochemistry and its relevance to clinical medicine, Medical Biochemistry at a Glance is intended for students of medicine and the biomedical sciences such as nutrition, biochemistry, sports science, medical laboratory sciences, physiotherapy, pharmacy, physiology, pharmacology, genetics and veterinary science. It also provides a succinct review and reference for medical practitioners and biomedical scientists who need to quickly refresh their knowledge of medical biochemistry. The book is designed as a revision guide for students preparing for examinations and contains topics that have been identified as 'high-yield' facts for the United States Medical Licensing Examination (USMLE), Step 1. This third edition: Has been thoroughly revised and updated and is now in full colour throughout Is written by the author of the hugely successful Metabolism at a Glance (ISBN 9781405107167) Features updated and improved clinical correlates Expands its coverage with a new section on Molecular Biology Includes a brand new companion website of self-assessment questions and answers at www.ataglanceseries.com/medicalbiochemistry

The Respiratory System At A Glance

Author: Jeremy P. T. Ward
Editor: John Wiley & Sons
ISBN: 1118293738
File Size: 10,66 MB
Format: PDF, Mobi
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Following the familiar, easy to use at a Glance format, and now in full-colour, The Respiratory System at a Glance is an accessible introduction and revision text for medical students. Reflecting changes to the content and assessment methods used in medical education and published clinical recommendations, this at a Glance provides a user-friendly overview of the respiratory system to encapsulate all that the student needs to know. This new edition of The Respiratory System at a Glance: Integrates both basic and clinical science - ideal for systems-based courses Includes both the pathophysiology and clinical aspects of the respiratory system Features more case studies, updated and colour figures, and new chapters on the epidemiology of respiratory disease, public health issues, and Sarcoidosis Includes self-assessment questions and answers and an appendix of tables of standard values Provides a simple 'one-stop' easy to use course and revision text

Medical Biochemistry At A Glance

Author: J. G. Salway
Editor: John Wiley & Sons
ISBN: 0470654511
File Size: 17,80 MB
Format: PDF, Kindle
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Offering a concise, illustrated summary of biochemistry and its relevance to clinical medicine, Medical Biochemistry at a Glance is intended for students of medicine and the biomedical sciences such as nutrition, biochemistry, sports science, medical laboratory sciences, physiotherapy, pharmacy, physiology, pharmacology, genetics and veterinary science. It also provides a succinct review and reference for medical practitioners and biomedical scientists who need to quickly refresh their knowledge of medical biochemistry. The book is designed as a revision guide for students preparing for examinations and contains topics that have been identified as 'high-yield' facts for the United States Medical Licensing Examination (USMLE), Step 1. This third edition: Has been thoroughly revised and updated and is now in full colour throughout Is written by the author of the hugely successful Metabolism at a Glance (ISBN 9781405107167) Features updated and improved clinical correlates Expands its coverage with a new section on Molecular Biology Includes a brand new companion website of self-assessment questions and answers at www.ataglanceseries.com/medicalbiochemistry