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Emery and Rimoin s Essential Medical Genetics

Emery and Rimoin s Essential Medical Genetics Author David L. Rimoin
ISBN-10 9780124169821
Release 2013-05-15
Pages 646
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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



Emery and Rimoin s Principles and Practice of Medical Genetics

Emery and Rimoin s Principles and Practice of Medical Genetics Author David L. Rimoin
ISBN-10 9780123838353
Release 2013-03-20
Pages 4700
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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. With almost 5,000 pages of detailed coverage, this fully online sixth edition of the classic reference adds the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies to complete its coverage of the growing field for medical students, residents and physicians involved in the care of patients with genetic conditions. Clinically oriented information is supported by expanded sections on basic 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. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this edition bridges the gap between high-level molecular genetics and clinical application. Features 174 review-length contributions that encompass traditional and new areas of the field - including in cancer genetics, genomic technologies, and molecular assays Provides many thousands of pertinent literature references guiding the reader in identifying related topics Fully illustrated with hundreds of color images, supporting identification, concept illustration and method processing



Medical Genetics at a Glance

Medical Genetics at a Glance Author Dorian J. Pritchard
ISBN-10 9781118689011
Release 2013-07-08
Pages 232
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Medical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. 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 science course. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include: • Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer • A much extended treatment of Biochemical Genetics • A completely revised chapter on The Cell Cycle, explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation • Two new chapters on Cardiac Developmental Pathology • An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.



Essentials of Medical Genetics for Health Professionals

Essentials of Medical Genetics for Health Professionals Author Director of Research and Faculty Development Medical College of Georgia Adjunct Faculty Doctor of Health Sciences Program Arizona School of Health Sciences A T Still University Staff Clinician Peachtree Medical Center Edgefield Cou Laura M Gunder
ISBN-10 9781449618087
Release 2010-10-25
Pages 236
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Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank.



Microbial Forensics

Microbial Forensics Author Bruce Budowle
ISBN-10 0123820073
Release 2010-10-27
Pages 744
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Microbial Forensics is a rapidly evolving scientific discipline. In the last decade, and particularly due to the anthrax letter attacks in the United States, microbial forensics has become more formalized and has played an increasingly greater role in crime investigations. This has brought renewed interest, development and application of new technologies, and new rules of forensic and policy engagement. It has many applications ranging from biodefense, criminal investigations, providing intelligence information, making society more secure, and helping protect precious resources, particularly human life. A combination of diverse areas is investigated, including the major disciplines of biology, microbiology, medicine, chemistry, physics, statistics, population genetics, and computer science. Microbial Forensics, Second Edition is fully revised and updated and serves as a complete reference of the discipline. It describes the advances, as well as the challenges and opportunities ahead, and will be integral in applying science to help solve future biocrimes. A collection of microbiology, virology, toxicology and mycology as it relates to forensics, in one reference New and expanded content to include statistical analysis of forensic data and legal admissibility and the standards of evidence, to name a few Includes research information and application of that research to crime scene analysis, which will allow practitioners to understand and apply the knowledge to their practice with ease



Essentials of Anatomic Pathology

Essentials of Anatomic Pathology Author Liang Cheng
ISBN-10 9783319233802
Release 2016-02-13
Pages 2109
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This much praised and widely used reference manual on has been extensively revised and expanded to cover the entire field of anatomic pathology. The Fourth Edition features the incorporation of full-color images in the text with updates of new diagnostic and prognostic information. New classifications and numerous new entities and histologic variants for each organ site will be fully incorporate in each individual chapter (Part II Organ Systems). Useful immunostaining biomarkers and emerging molecular targets and relevant molecular findings that have emerged from recent genomic studies are incorporated in each chapter. Written by internationally recognized authorities, the comprehensive, evidence-based practice information is presented in an outline format that is clear and easy to follow. Up-to-date and richly detailed, Essentials of Anatomic Pathology, Fourth Edition offers both the pathologist-in-training and the practicing pathologist a concise summary of all the critical information needed to recognize, understand and interpret anatomic pathology.



Cleft Palate Craniofacial Anomalies Effects on Speech and Resonance

Cleft Palate   Craniofacial Anomalies  Effects on Speech and Resonance Author Ann Kummer
ISBN-10 9781133732365
Release 2013-04-18
Pages 752
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CLEFT PALATE & CRANIOFACIAL ANOMALIES: EFFECTS ON SPEECH AND RESONANCE 3E is the only book of its kind to cover both oral and facial anomalies, as well as cleft palate. Designed as a how-to guide for the practicing clinician, this book emphasizes what students need to know in the workplace to evaluate and treat individuals with speech disorders related to structural anomalies. Common craniofacial anomalies, associated anomalies, and genetic syndromes are also included. There is basic information on anatomy, physiology, and embryology of the face and oral cavity. The book covers how oral, dental, and ENT anomalies affect speech, resonance, and feeding. The evaluation section includes practical information on how to conduct a perceptual evaluation of speech and resonance and an intraoral examination. An overview chapter on instrumental procedures is provided for students, and chapters on how to perform and interpret these procedures is provided for clinicians. The treatment section includes surgical procedures and the use of prosthetic devices. Specific speech-therapy techniques are described for the treatment of speech errors associated with resonance disorders and velopharyngeal dysfunction. The need for multidisciplinary team assessment and treatment is also stressed. This book is easy to read to maximize learning. Many quality illustrative videos and video case studies are used to provide practical knowledge on how to evaluate and treat affected individuals. Important Notice: Media content referenced within the product description or the product text may not be available in the ebook version.



Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Author Helen V. Firth
ISBN-10 9780192519832
Release 2017-09-12
Pages 824
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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

Medical Genetics Author Lynn B. Jorde
ISBN-10 9780323188357
Release 2015-09-04
Pages 356
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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.



Color Atlas of Genetics

Color Atlas of Genetics Author Eberhard Passarge
ISBN-10 9783132414419
Release 2017-12-13
Pages 474
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Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.



Genes Behavior and the Social Environment

Genes  Behavior  and the Social Environment Author Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
ISBN-10 9780309101967
Release 2006-11-07
Pages 384
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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.



Paediatric Thyroidology

Paediatric Thyroidology Author G. Szinnai
ISBN-10 3318027200
Release 2014
Pages 251
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Presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. This book includes chapters that provide information and guidelines for clinical problems encountered in pediatric thyroidology.



Genetics of Human Infertility

Genetics of Human Infertility Author P.H. Vogt
ISBN-10 9783318060980
Release 2017-09-12
Pages 178
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Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.



Principles and practice of medical genetics

Principles and practice of medical genetics Author Alan E. H. Emery
ISBN-10 UCAL:$B463124
Release 1983-12
Pages 1502
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Principles and practice of medical genetics has been writing in one form or another for most of life. You can find so many inspiration from Principles and practice of medical genetics also informative, and entertaining. Click DOWNLOAD or Read Online button to get full Principles and practice of medical genetics book for free.



Bioactive Components Diet and Medical Treatment in Cancer Prevention

Bioactive Components  Diet and Medical Treatment in Cancer Prevention Author Mostafa I. Waly
ISBN-10 9783319756936
Release 2018-04-06
Pages 222
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The high rate of urbanization and a steady increase in per capita income has improved the socio-economic status of people all over the world. This has resulted in drastic changes in their lifestyle and food consumption patterns, where traditional foods are being replaced with more ready-made junk foods with few servings of fresh vegetables and fruits. It has been postulated that industrialization has caused change in food choice, dietary pattern modification and resulted in a sedentary lifestyle. In addition, contaminated foods with unsafe microbes and chemical hazards are increasing. All of these events have resulted in an increased risk of cancer, the leading cause of mortality and morbidity worldwide. This book will provide a basic understanding of cancer, its risk factors, preventive measures, and possible treatments currently available, as well as identifying the different dietary factors that might synergize with a sedentary lifestyle in the etiology of cancer, and its prevention measure.



Oxford Desk Reference Clinical Genetics and Genomics

Oxford Desk Reference  Clinical Genetics and Genomics Author Helen V. Firth
ISBN-10 9780192519825
Release 2017-09-07
Pages 824
Download Link Click Here

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.



The Dyslexia Debate

The Dyslexia Debate Author Julian G. Elliott
ISBN-10 9780521119863
Release 2014-03-24
Pages 296
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An examination of how we use the term 'dyslexia' and how this may undermine aid for struggling readers.